A characteristic symptom complex.
Excerpt | Reference |
"The fat embolism syndrome is a self limiting disease with its mortality related to the degree of respiratory failure." | ( Fisher, MM; Worthley, LI, 1979) |
"A syndrome is described which affects subjects whose consumption of beer is considerable but who take no or little ordinary food." | ( Hilden, T; Svendsen, TL, 1975) |
"The Sézary syndrome is a lymphoproliferative disorder of the skin, the lymph nodes, and to a smaller extent the bone marrow, which begins with erythrodermia." | ( Fierz, W; Goor, W; Maier, C; Ott, F; Pedio, G; Rüttner, JR; Schmid, W, 1976) |
"The Verner-Morrison Syndrome is a clinically defined entity caused by an islet cell tumor of the pancreas." | ( Burkhardt, A, 1976) |
"The glucagonoma syndrome is characterized by dermatitis, stomatitis, elevated serum glucagon levels, abnormal glucose tolerance, weight loss, and anemia--all in association with a glucagon-secreting alpha-cell tumor of the pancreas." | ( Binnick, AN; Dennison, WL; Horton, ES; Spencer, SK, 1977) |
"The glucagonoma syndrome is a rare clinical condition characterized by a distinctive cutaneous eruption associated with a glucagon-secreting islet cell neoplasm of the pancreas." | ( Amon, RB; Hanifin, JM; Swenson, KH, 1978) |
"The glucagonoma syndrome is characterized by necrolytic migratory erythema, glossitis, ungual dystrophy, diabetes mellitus, anemia, weight loss, elevated plasma glucagon levels and an alpha-cell glucagon-secreting neoplasm of the pancreas." | ( Berczeller, PH; Shupack, JL; Stevens, DM, 1978) |
"Cushing's syndrome is characterized by protein wasting secondary to hypergluconeogenesis, which produces thin skin, poor muscle tone, osteoporosis and capillary fragility." | ( Greenblatt, RB; Rincón, J; Schwartz, RP, 1979) |
"This syndrome is defined by the presence of hypothyroidism or euthyroidism with high plasma levels of thyroid hormone." | ( Bernal, J; DeGroot, LJ; Refetoff, S, 1978) |
"The syndrome is rare; only approximately 40 cases have been described in the literature since 1938." | ( Hornstein, L; Neale, HW; Vaitiekaitis, AS, 1979) |
"Meconium aspiration syndrome is a perinatal problem which requires the full cooperation and coordination of obstetrical and pediatric personnel if it is to be avoided." | ( Bacsik, RD, 1977) |
"This syndrome is widespread in distribution and a major cause of death in chronic dialysis patients." | ( Alfrey, AC, 1978) |
"If the word "syndrome" is to be used to describe symptoms attributed to specific food ingredients, the limits of the "syndrome" must be specified." | ( El-Lozy, M; Kerr, GR; McGandy, R; Stare, FJ; Wu-Lee, M, 1979) |
"This syndrome is no separate entity." | ( Hundeiker, M; Mühlendyck, H, 1978) |
"This rare syndrome is characterized by short stature, sparse, fine scalp hair, a pear-shaped nose, long philtrum, normal intelligence, and cone-shaped epiphyses of the phalanges with deformities of the fingers." | ( Balsam, D; Collipp, PJ; Kuna, GB, 1978) |
"The syndrome is far more common than the single case report in the literature would indicate." | ( Herrin, JT; Krishnamoorthy, K; Moylan, FM; Shannon, DC; Todres, ID, 1978) |
"The Shulman syndrome is a symptom complex recently described in the rheumatology literature that is characterized by eosinophilia, hypergammaglobulinemia, and a diffuse scleroderma-like process of the extremities." | ( Lopez, DA; McGlamory, JC; Shewmake, SW, 1978) |
"The milk curd syndrome is an as yet little known cause of intestinal obstruction in neonates." | ( Pochon, JP; Stauffer, UG, 1978) |
"A syndrome is described in which parturient dairy cows showed clinical signs consistent with milk fever but failed to respond to conventional therapy." | ( Bradley, R; Gitter, M; Pepper, R, 1978) |
"Fat embolism syndrome is most often seen after fracture of long bones, and immobilization of the fracture site may decrease risk of its development." | ( Gong, H, 1977) |
"The syndrome is defined by spontaneous attacks of dizziness and fainting which can be reproduced by graded pressure on one carotid sinus." | ( Cohen, FL; Fruehan, CT; King, BB, 1976) |
"The fetal hydantoin syndrome is a variable pattern of altered growth and performance which includes unusual facies, distal phalangeal hyoplasia, and other defects occurring in some infants exposed in utero to hydantoins." | ( Hanson, JW; Harvey, MA; Myrianthopoulos, NC; Smith, DW, 1976) |
"The cause of the syndrome is not known, but it seems to be an abnormal response of neural membranes rather than an abnormality of calcium homeostasis." | ( Isgreen, WP, 1976) |
"This syndrome is characterized by primary or secondary amenorrhoea, normal height, weak development of secondary sexfeatures, and by small ovaries which have the oval or roller, more seldom ball-like or streaking form." | ( Baron, J; Hyla, R, 1976) |
"The cause of the syndrome is still unknown but disturbance of passage through the membrane is considered." | ( Shibata, H; Toyama, K, 1976) |
"Bernard-Soulier syndrome is a rare constitutional thrombopathy, the main clinical feature is a bleeding tendency which is variable." | ( Tobelem, G, 1976) |
"DiGeorge syndrome is broadly defined as absence or hypoplasia of the thymus due to dysmorphogenesis of the third and fourth pharyngeal pouches in early embryonic life." | ( Huff, DS; Lischner, HW, 1975) |
"The campomelic syndrome is a short-limb, usually fatal, neonatal dwarfism." | ( Becker, MH; Darling, D; Feingold, M; Finegold, M; Genieser, NB, 1975) |
"The T." | ( de Boisgisson, P; Iglésias, JJ; Navio Nino, S; Seebode, J, 1975) |
"However, the syndrome is complicated by an associated chromosomal abnormality (XO/XXY/XY) whose significance is unclear." | ( Rabin, D, 1975) |
"The Romano-Ward syndrome is very rare as hereditary disease." | ( Hanazono, N; Tanaka, R, 1975) |
"The Indian Dhat syndrome is a culture-bound symptom complex." | ( Malhotra, HK; Wig, NN, 1975) |
"The syndrome is a systemic multiorgan disorder in which the choriod and retina would appear to be target organs and the hyperornithinemia to be of as yet undetermined cause and pathogenic significance." | ( Marliss, EB; McCulloch, C, 1975) |
"Recognition of this syndrome is important because: (1) surgical procedures for glaucoma should be avoided, if possible, in order to prevent the development of uveal effusion; (2) retinal detachment surgical procedures are ineffective in uveal effusion and should be avoided, and (3) choroidal elevation occurring in the uveal effusion phase may be erroneously diagnosed as an intraocular tumor and unnecessary enucleation may follow." | ( Brockhurst, RJ, 1975) |
"This familial syndrome is distinct from either the Laurence-Moon, Bardet-Biedl or Alström disorders and provides further evidence of genetic heterogeneity in this group of autosomal recessive traits." | ( Bannerman, RM; Edwards, JA; Frohman, LA; Scoma, AJ; Sethi, PK, 1976) |
"This syndrome is discussed in relation to previous reports of atypical ichthyosiform erythroderma associated with deafness." | ( Moynahan, EJ; Rycroft, RJ; Wells, RS, 1976) |
"The Walker-Warburg syndrome is characterized by lissencephaly type II, cerebellar and retinal anomalies and congenital muscular dystrophy." | ( De Wilde, G; Govaert, P; Hansens, M, 1992) |
"The De Barsy syndrome is an autosomal recessive syndrome of dwarfism, mental deficiency, an "aged" appearance at birth, abnormal elastic fibers on skin biopsy, and lax skin, large helices, eye abnormalities, lax joints, hypotonia, and athetoid posturing." | ( Falk, RE; Fazio, MJ; Karnes, PS; Olsen, DR; Shamban, AT, 1992) |
"The syndrome is characterized by insulin insensitivity and an increased control of metabolism by cortisol." | ( Brindley, DN, 1992) |
"A new syndrome is described in a patient with advanced renal insufficiency." | ( Brooks, B; Byers, LW; Muirhead, EE; Schroeder, ET; Streeten, DH, 1992) |
"The Polled Hereford syndrome is similar in many ways to type I congenital dyserythropoiesis in humans and may be an appropriate biomedical model for studying erythroid proliferation during dyserythropoiesis." | ( Elliott, GS; Leipold, HW; Smith, JE; Steffen, DJ, 1992) |
"Kasabach-Merritt syndrome is a combination of thrombocytopenia, intravascular coagulation, and a rapid increase in the size of an angioma." | ( Andry, P; Bodemer, C; Brunelle, F; de Prost, Y; Hubert, P; Nihoul-Fékété, C; Sebag, G; Teillac-Hamel, D, 1992) |
"Usher syndrome is the most commonly recognized cause of combined visual and hearing loss in technologically developed countries." | ( Beighton, PH; Davenport, S; Greenberg, J; Grunkemeyer, JA; Kenyon, JB; Kimberling, WJ; Möller, CG; Priluck, IA; Reardon, W; Weston, MD, 1992) |
"This syndrome is marked by depigmentation of the periocular region, lips and nose in association with severe uveitis." | ( Carr, AP; Hollingsworth, S; Müller, RS, 1992) |
"Wells' syndrome is a rare dermatological disease whose origin remains uncertain." | ( de la Brassinne, M; Laso-Dosal, F; Paquet, P, 1992) |
"Fraser Syndrome is a rare autosomal recessive disorder (Gupta and Saxena, 1962; Smith, 1982)." | ( Bailey, CM; Ford, GR; Irving, RM; Jones, NS, 1992) |
"Sneddon's syndrome is a rare condition comprising widespread livedo retucularis and multiple episodes of transient cerebral ischemia." | ( Kirby, JD; Kovacs, IB; Mayou, SC; Ridler, CD, 1992) |
"The cheiro-oral syndrome is a well-known peculiar sensory disturbance seen around the corner of the mouth and in the palm of the hand on the same side." | ( Akiguchi, I; Kimura, J; Morita, T; Okada, T; Seko, S; Yasuda, Y, 1992) |
"The toxic oil syndrome is characterized by IgE elevation and eosinophilia, as well as scleroderma-like skin manifestations and other symptoms of autoimmune disease." | ( Bell, SA; Hobbs, MV; Rubin, RL, 1992) |
"Since the MEN1 syndrome is caused by loss of the tumor suppressor gene on chromosome 11 in the 11q13 region, it is probable that the same mechanism is associated with the formation of the adrenocortical adenoma." | ( Abs, R; Beckers, A; Kovacs, K; Reznik, M; Stevenaert, A; van der Auwera, B; Willems, PJ, 1992) |
"The N syndrome is characterized by mental retardation, malformations, chromosome breakage, and development of T-cell leukemia (Opitz et al." | ( Floy, KM; Hess, RO; Meisner, LF, 1990) |
"Wolf-Hirschhorn syndrome is a clinically recognizable, multiple congenital anomaly syndrome usually associated with terminal deletion of the short arm of chromosome 4." | ( Altherr, MR; Bengtsson, U; Elder, FF; Greenberg, F; Gusella, JF; Ledbetter, DH; McDonald, ME; Wasmuth, JJ, 1991) |
"This Roux-en-Y syndrome is caused by slow gastric emptying, Roux-limb stasis, or both." | ( Beekhuis, H; Bleichrodt, RP; Kleibeuker, JH; van der Mijle, HC, 1991) |
"The glucagonoma syndrome is characterized by elevated serum glucagon, a pancreatic alpha-cell tumor, anemia, hypoaminoacidemia, and necrolytic migratory erythema." | ( Raimer, SS; Shepherd, ME; Smith, EB; Tyring, SK, 1991) |
"The rabbit syndrome is an extrapyramidal side effect associated with chronic neuroleptic therapy." | ( Fornazzari, L; Ichise, M; Remington, G; Smith, I, 1991) |
"Since monosomy 7 syndrome is very difficult to differentiate from JCMMoL or acute nonlymphocytic leukemia (ANLL) unless appropriate chromosomal studies are obtained, we believe it is possible that monosomy 7 may occur with increased frequency in patients with NF-1." | ( Carbone, TV; Kelleher, JF, 1991) |
"The syndrome is caused by a single mutant recessive gene responsible for both the deafness and goitre." | ( Elamin, A, 1991) |
"Tapia's syndrome is due to extracranial involvement of the XIIth nerve and the recurrent laryngeal branch of the Xth nerve." | ( Chimelli, L; de Freitas, MR; Nascimento, OJ, 1991) |
"Kallmann's syndrome is generally assessed by history and subjective tests of olfactory function." | ( Hummel, T; Kobal, G; Pietsch, H, 1991) |
"The syndrome is underreported and undertreated in Norway." | ( Eriksen, BC; Hunskår, S, 1991) |
"Since the sepsis syndrome is associated with depressed vascular reactivity, it may be incorrect to assume that pharmacologically mediated changes in cardiac output will be proportionately distributed at the regional level of the circulation." | ( Hobson, J; Raper, RF; Rutledge, FS; Sibbald, WJ, 1991) |
"This syndrome is 1 of the few treatable causes of chronic episodic vertigo." | ( Baloh, RW; Winder, A, 1991) |
"The hyper-IgE syndrome is characterized clinically by recurrent staphylococcal abscesses of the skin, lungs and other sites from infancy." | ( Baerlocher, K; Hochreutener, H; Huwyler, T; Schopfer, K; Seger, R; Wüthrich, B, 1991) |
"Sneddon syndrome is a non-inflammatory, non-atherosclerotic disease involving small and medium-sized arteries of the brain and of the skin." | ( Canepari, C; Cappa, S; Fazio, F; Perani, D; Riva, M; Sterzi, R, 1991) |
"Two forms of the syndrome are traditionally described: neurological and myxoedematous." | ( Boyages, SC; Collins, JK; Eastman, CJ; Halpern, JP; Maberly, GF; Morris, JG, 1991) |
"Buschke-Ollendorff syndrome is an association of connective tissue nevi and osteopoikilosis that usually appears in the first decades of life." | ( Ben-David, E; David, M; Rothem, A; Sandbank, M; Trattner, A, 1991) |
"This syndrome is characterized by Raynaud phenomenon, polyneuropathy, edema, anasarca, papilledema, osteosclerosis and lymphadenopathy with the histopathology of Castleman's disease, hypothyroidism, hypogonadism, cutaneous sclerosis, hyperpigmentation, axillary alopecia and the presence of urinary lambda light chains." | ( Castro Ríos, MA; Kniznik, DO, 1990) |
"The sacral agenesis syndrome is a severe congenital abnormality consisting of agenesis of the lumbar spine, sacrum, and coccyx, as well as hypoplasia of the lower extremities." | ( Foley, MR; Gabbe, SG; Landon, MB; Shubert-Moell, K; Sonek, JD; Stempel, LE, 1990) |
"Maffucci's syndrome is a rare, congenital disease of unknown cause characterized by the development of multiple enchondromas and soft-tissue hemangiomas." | ( Cappelen-Smith, J; Johnson, TE; Nalbandian, RM; Nasr, AM, 1990) |
"The syndrome is associated with chronic pelvic pain and is suspected when premenopausal levels of FSH and LH are present in a patient with documented bilateral oophorectomy." | ( Broadstreet, RP; Kaminski, PF; Mandell, MJ; Sorosky, JI; Zaino, RJ, 1990) |
"Nicolau syndrome is a rare complication, which occurs after intramuscular injections of various drugs, particularly antirheumatic drugs." | ( Asztalos, L; Varga, L, 1990) |
"The sick cell syndrome is a disorder of the cellular Na+/K+ pump with several causes which include hypoxia, sepsis, hypovolaemia and malnourishment." | ( Baena Montilla, P; Benito Ruiz, J; Navarro Monzonis, A, 1990) |
"Slit ventricle syndrome is characterized by chronic or recurring headaches associated with subnormal ventricular volume in patients who have undergone shunt treatment for hydrocephalus." | ( Cogen, PH; Edwards, MS; Obana, WG; Raskin, NH; Szymanski, JA, 1990) |
"The MOF syndrome is considered to be a generalised "inflammatory reaction" to tissue aggression involving a cascade of mediatory factors (TNF, interleukines." | ( Charbonneau, P; Suisse, A, 1990) |
"Organic dust toxic syndrome is a term recently coined to describe a noninfectious, febrile illness associated with chills, malaise, myalgia, a dry cough, dyspnea, headache and nausea which occurs after heavy organic dust exposure." | ( Rennard, SI; Robbins, RA; Thompson, AB; Von Essen, S, 1990) |
"Recognition of this syndrome is important in view of the dramatic response to treatment, particularly corticosteroids." | ( Bijlsma, JW; Bruyn, GA; Missier, ET; Toonstra, J, 1990) |
"This post-resection syndrome is caused by resorption of a large amount of the hypotonic solution used during the surgical procedure and containing 1." | ( Clément, P; Paulet, C, 1990) |
"The pseudolymphoma syndrome is a reversible reactive condition consisting of fever, lymphadenopathy and generalized rash." | ( Henderson, CA; Shamy, HK, 1990) |
"Dhat syndrome is a culture-bound sex neurosis of the Indian subcontinent." | ( Ahuja, N; Chadda, RK, 1990) |
"Sweet's syndrome is reviewed with regard to its associations and to its pathogenesis." | ( Blanch-Torra, L; Domingo-Pedrol, P; Obrador-Mayol, D; Perez-Perez, A; Rodriguez de la Serna, A, 1985) |
"The Rett syndrome is a progressive disorder in female patients that is characterized by autistic behavior, dementia, ataxia, loss of purposeful use of the hands, and seizures." | ( Butler, IJ; Glaze, DG; Percy, AK; Riccardi, VM; Zoghbi, HY, 1985) |
"This syndrome is an anxiety state occurring in the presence of elevated levels of atmospheric or ambient cations and is associated with elevated central and peripheral serotonin levels." | ( Giannini, AJ; Malone, DA; Piotrowski, TA, 1986) |
"This syndrome is considered to be a dermatological entity unrelated to systemic disorders." | ( Bergman, W; Dijkmans, BA; Eulderink, F; Meijers, KA, 1986) |
"Immerslund-Grasbeck syndrome is an uncommon disease, characterized by megaloblastic anaemia and persistent proteinuria." | ( Aggarwal, V; Banerjee, G; el Mauhoub, M; Sudarshan, G, 1989) |
"The cause of this syndrome is unknown, in some cases a relationship between infectious disease or traumatic brain damage has been postulated." | ( Boer, F; Njiokiktjien, C; Smit, LM; Smith, F; Visscher, F, 1989) |
"The limy bile syndrome is very rare in infancy and childhood and is found more exceptionally in new-born." | ( De Lagausie, P; Eymeri, JC; Hugon, N; Jouanelle, A; Rival, JM, 1989) |
"The name BBBG syndrome is proposed for the amalgamated syndrome." | ( Briard, ML; Le Merrer, M; Verloes, A, 1989) |
"Rett syndrome is a neurological disorder of females characterized by dementia, autism, movement disorders and an abnormality of respiratory control." | ( Bachman, C; Maguire, D, 1989) |
"The exfoliation syndrome is thought to be a very rare disease in China." | ( Mao, WS; Ye, TC; Zhang, J, 1989) |
"The lip pits syndrome is inherited as an autosomal dominant trait with high penetrance (80%), but its clinical expression is variable." | ( Calzavara Pinton, PG; Carlino, A; Gavazzoni, R; Leali, C, 1989) |
"Some of those new syndromes are inherited, whereas FNM is an isolated finding." | ( Gorlin, RJ; Sedano, HO, 1988) |
"Cheiro-oral syndrome is a peculiar sensory disturbance observed around the corner of the mouth and the palm of the hand on the same side, usually occurring unilaterally." | ( Akiguchi, I; Ishikawa, M; Kameyama, M; Yasuda, Y, 1988) |
"The glucagonoma syndrome is characterized by a necrolytic migratory erythematous rash, angular stomatitis, painful glossitis, a normochromic normocytic anemia, mild diabetes mellitus, weight loss, a tendency to thrombosis, and neuropsychiatric disturbances." | ( Bloom, SR; Polak, JM, 1987) |
"Rett syndrome is an increasingly recognized progressive disorder in females, commencing in infancy and characterized by autistic behavior, gait ataxia, stereotyped movements, seizures and generalized growth and mental retardation, possibly associated with disorders of central biogenic amine synthesis." | ( Armstrong, D; Jellinger, K; Percy, AK; Zoghbi, HY, 1988) |
"The syndrome is characterized by a clinical ictal triad of nocturnal seizures, tonic deviation of the eyes, and vomiting." | ( Panayiotopoulos, CP, 1989) |
"The syndrome is due to autonomous production of 1 alpha hydroxylase by granulomas." | ( Delahousse, M; Messier, G; Meyrier, A; Rainfray, M; Valeyre, D, 1987) |
"Because Rett syndrome is a relatively homogeneous and common syndrome of idiopathic mental retardation, epidemiologic methods may be more productive in the study of Rett syndrome than in other syndromes of mental retardation that are less clinically homogeneous." | ( Adams, MJ; Trevathan, E, 1988) |
"Although the syndrome is thought to be relatively common, it was only described in the English literature 5 years ago." | ( Naidu, S; Trevathan, E, 1988) |
"Evans syndrome is defined as the simultaneous or sequential occurrence of Coombs' positive hemolytic anemia and immune thrombocytopenia without known underlying etiology." | ( Wang, WC, 1988) |
"Warburg syndrome is a recently defined autosomal recessive oculocerebral syndrome." | ( Attia, MF; Burn, J; McCarthy, JH; Milligan, DW; Purohit, DP, 1986) |
"As Zellweger syndrome is usually fatal in early life, prenatal diagnosis of the disease is important." | ( Heymans, HS; Schrakamp, G; Schram, AW; Schutgens, RB; Tager, JM; van den Bosch, H; Wanders, RJ, 1987) |
"Infants with this syndrome are at a high risk of sudden death." | ( Barbier-Bohm, G; De Brux, JL; Desmonts, JM; Langlois, J; Mantz, J; Pansard, Y; Pernot, C, 1987) |
"Diabetic hand syndrome is a condition affecting about 30% of patients with insulin-requiring juvenile diabetes." | ( Bartolozzi, G; Bernardini, S; Bufalini, C; Ceruso, M; Cinti, S; Lauri, G; Matucci-Cerinic, M; Morroni, M, 1988) |
"Stiff-man syndrome is a rare disorder of the central nervous system consisting of progressive, fluctuating muscle rigidity with painful spasms." | ( Comi, GC; De Camilli, P; Denis-Donini, S; Folli, F; Pozza, G; Solimena, M; Vicari, AM, 1988) |
"Zellweger syndrome is the prototype of a growing group of genetic diseases caused by an absence or deficiency of peroxisomes." | ( Black, V; Dancis, J; Esterman, A; Lazarow, PB; Moser, A; Moser, H; Santos, M; Shio, H; Small, GM, 1988) |
"These syndromes are briefly reviewed." | ( Boltshauser, E; Dumermuth, G; Lange, B, 1987) |
"The cause of this syndrome is unknown." | ( Allen, JC; Caparros, B; Rosen, G; Walker, RW, 1986) |
"The Gray platelet syndrome is a rare disorder characterised by the absence of platelet alpha-granules and their contents." | ( Berry, EW; Howard, MA; Menon, C; Pfueller, SL; White, JG, 1987) |
"This syndrome is associated with a high frequency of gynecological diseases (first described in 1908 by Arbuthnot Lane), galactorrhea, urological abnormalities, abnormal manometric oesophageal recordings, Raynaud's phenomenon, idiopathic oedema, orthostatic hypotension and neurological symptoms." | ( Willocx, R, 1986) |
"The "purple toes syndrome" is a rare complication of oral anticoagulant therapy." | ( Ashman, RF; Hyman, BT; Landas, SK; Robinson, RA; Schelper, RL, 1987) |
"The bowel bypass syndrome is a well-recognized complication in patients who have had jejunoileal bypass for morbid obesity." | ( Dicken, CH, 1986) |
"Sweet's syndrome is a rare condition characterized by fever, leukocytosis, dense dermal infiltration of leukocytes, and painful indurated cutaneous plaques." | ( Barrett, FF; Bond, MJ; Edwards, TC; Stapleton, FB, 1986) |
"This syndrome is characterized by minor skin or joint manifestations replaced by arterial accidents (arterial rupture or development of aneurysms)." | ( Bernard, P; Beylot, C; Bokor, J; Brutus, P; Catanzano, G; Christides, C; Dany, F; Fraysse, A; Priollet, P, 1986) |
"The syndrome is characterized by burning dysesthesias and paresthesias in the hands and may be associated with either cervical fracture/dislocation or no detectable cervical spine abnormalities." | ( Abla, A; Maroon, JC; Wilberger, JE, 1986) |
"King's syndrome is a sporadic genetic syndrome exhibiting characteristic facial features, short stature, and subclinical myopathy." | ( Steenson, AJ; Torkelson, RD, 1987) |
"The crocodile tears syndrome is considered to be a result of an ephaptic union of the central portion of the damaged lesser superficial petrosal nerve (SPN) with the peripheral portion of the greater SPN." | ( Levin, SL, 1987) |
"Cat's eye syndrome is a very rare disease with many congenital anomalies." | ( Nakamura, K, 1985) |
"The Rieger syndrome is a rare, autosomal dominant disorder." | ( Drum, MA; Guckes, AD; Kaiser-Kupfer, MI; Roberts, MW, 1985) |
"The cause of this syndrome is unknown, but affected patients appear to have a high incidence of positive radioallergosorbent tests to a conjugate of human serum albumin and ethylene oxide, suggesting that ethylene oxide, a substance used to dry sterilize artificial kidneys, may be an offending allergen." | ( Caruana, RJ; Hamilton, RW; Pearson, FC, 1985) |
"The myelodysplastic syndromes are a group of bone marrow stem cell disorders which were considered refractory to chemotherapy until recently." | ( Inbal, A; Januszewicz, E; Rabinowictz, M; Shaklai, M, 1985) |
"The Low T3 Sick Syndrome is a syndrome of low triiodothyronine (T3), low to normal thyroxine (T4), and a nonelevated thyrotropin despite the low T3 levels." | ( Cheron, RG; Jaffe, BM; Money, SR; Zinner, MJ, 1986) |
"The Tn syndrome is an acquired clonal disorder characterized by the exposure of a normally hidden determinant, the Tn antigen, on the surface of human erythrocytes, platelets, granulocytes, and lymphocytes." | ( Cartron, JP; Fache, MP; Henri, A; Rochant, H; Tabilio, A; Testa, U; Vainchenker, W; Vinci, G, 1985) |
"The grey platelet syndrome is a rare inherited disorder characterized by a marked decrease or absence of alpha-granules and of platelet-specific alpha-granule proteins." | ( Greenberg-Sepersky, SM; Simons, ER; White, JG, 1985) |
"The hepatorenal syndrome is considered to be a functional renal failure due to active renal vasoconstriction." | ( Chaintreuil, J; Crastes de Paulet, A; Crastes de Paulet, P; Michel, F; Michel, H; Mirouze, D; Parelon, G, 1985) |
"This syndrome is characterized as an occlusive vasculopathy rather than vasculitis, and should be considered in evaluations of young women presenting with encephalopathy and hearing loss." | ( Coppeto, JR; Cuneo, RA; DeArmond, SJ; Monteiro, ML; Prusiner, SB; Swanson, RA, 1985) |
"The etiology of the syndrome is unknown, a transient defect in cell-mediated immunity being postulated." | ( Briner, J; Leumann, EP; Nemeth, J, 1985) |
"Williams syndrome is associated with neonatal hypercalcemia of unclear pathogenesis." | ( Culler, FL; Deftos, LJ; Jones, KL, 1985) |
"Hypothenar hammer syndrome is a reversible yet uncommonly encountered cause of Raynaud's phenomenon." | ( Bookstein, JJ; Pineda, CJ; Saltzstein, SL; Weisman, MH, 1985) |
"The tilted disc syndrome is an ocular anomaly characterized by dysversion of the optic nerve head, congenital crescent, vessel anomalies, ectasia and depigmentation of the infero-nasal fundus." | ( Giuffré, G, 1985) |
"Pendred's syndrome is reported in three siblings." | ( Evered, DC; Gomez-Pan, A; Hall, R, 1974) |
"The syndrome is frequently familial, but no inherited case is known." | ( Bartter, FC, 1974) |
"The Rieger syndrome is characterized by mesoectodermal dysplasia of the iris and cornea, dental defects, in some cases short stature, abnormal external ears, hypertelorism, arachnodactyly, polydactyly, scoliosis, kyphosis, imperforate anus, umbilical hernia, myopathy and in a few cases mental retardation." | ( Duenas, D; Hiatt, RL; Johnson, WW; Summitt, RL, 1971) |
"The syndrome is characterized by a protracted clinical course, a relatively mild anaemia, a low reticulocyte count, slight hyperbilirubinaemia, splenomegaly, pronounced erythroid hyperplasia with reversal of the myeloid erythroid ratio, and in particular by the presence of multinucleated erythroblasts in the marrow." | ( Bright, M; Cobb, J; Evans, B; Parry, TE, 1972) |
"The syndrome is not dose related and can begin within hours of initiation of therapy or after months of treatment." | ( Conner, CS, 1983) |
"The syndrome is characterized by elevations in serum thyroxine and the free-thyroxine index (FT4l), which are due to an abnormal serum albumin that preferentially binds thyroxine." | ( Braverman, LE; Brown, R; Ingbar, SH; Rajatanavin, R; Ruiz, M; Taylor, C; Young, RA, 1982) |
"Schwachman's syndrome is characterised by pancreatic insufficiency and frequent infections." | ( Daugherty, CC; Rothbaum, RJ; Williams, DA, 1982) |
"In most cases this syndrome is a complication of supracondylar fractures of the humerus in children." | ( Hacke, W; Meya, U, 1983) |
"The premenstrual syndrome is diagnosed historically, with symptoms recorded meticulously on a menstrual calendar." | ( Shangold, MM, 1983) |
"This syndrome is characterized by excess triglyceride (TG) accumulation in the liver and apparent decreased hepatic lipoprotein output." | ( Emery, RS; Gerloff, BJ; Herdt, TH; Wells, WW, 1984) |
"A florid syndrome is coincidental with left hemisphere overactivation and a non-florid syndrome with right hemispheric overactivation." | ( Gruzelier, JH, 1984) |
"Hyperviscosity syndromes are characterized by altered blood flow properties; the rheological properties of blood depend from cellular or plasmatic factors." | ( Belloni, M; Calabrò, A; Crepaldi, G; Muggeo, M; Ongaro, G, 1983) |
"The syndrome is a distinctive and unusual manifestation of high cervical myelopathy, and it has seldom been reported associated with cervical spondylosis." | ( Couch, JR; Good, DC; Wacaser, L, 1984) |
"However, this syndrome is rather unusual among all those young adults and athletes with hypertrophied gastrocnemius." | ( D'Amico, P; Lapointe, R; Rabbat, A; Trudel, J, 1984) |
"Wildervanck syndrome is a combination of congenital anomalies characterized by deafness, Klippel-Feil deformity, and an unusual ocular motility disturbance called Duane retraction syndrome." | ( Mafee, MF; Miller, MF; Schild, JA, 1984) |
"The syndrome is therefore postulated to be due to hypersensitivity in the patient's own RBCs." | ( Bithoney, WG; Clark, GD; Key, JD; Rutherford, P, 1984) |
"The Hand-Foot Syndrome is a form of sickle cell disease that occurs in infancy." | ( Sarreck, R; Silver, L, 1984) |
"This lethal syndrome is compared with other, similar, induced lethal states in which cycloheximide plays an essential role, and in which heparin is lifesaving." | ( Parry, EW, 1984) |
"The basis of the syndrome is obscure, and its occurrence during alcohol withdrawal, in association with readily acknowledged visual hallucinations and otherwise preserved mentation, has not been previously reported." | ( Brust, JC; Swartz, BE, 1984) |
"This syndrome is the human counterpart to vitamin E deficiency in experimental animals." | ( Abraham, FA; Bertoni, JM; Falls, HF; Itabashi, HH, 1984) |
"Although this syndrome is usually due to lateral hemisection of the spinal cord by a stab wound or a gunshot wound, in this case we believe it resulted from chemical transection due to the heroin or quinine diluent or both." | ( Krause, GS, 1983) |
"The genetics of the syndrome are discussed and the possibility of the drug's influence on the malformation is suggested." | ( Aksüyek, C; Bökesoy, I; Deniz, E, 1983) |
"Cockett's syndrome is due to compression of the left common iliac vein by the left iliac artery." | ( Burghard, G; Ducolone, A; Tongio, J; Vandevenne, A, 1983) |
"Toxic shock syndrome is rarely reported in patients who are immunosuppressed, perhaps because such patients are often treated vigorously with antibiotics at the earliest sign of infection." | ( Birmingham, CL; Chan, RM; Graham, HR, 1983) |
"Preleukemic syndromes are a group of acquired bone-marrow disorders characterized by dysplastic maturation of hematopoietic cells and peripheral-blood cytopenias." | ( Griffin, JD; Kufe, DW; Wisch, JS, 1983) |
"Often the syndrome is misdiagnosed as cervical adenitis and inappropriately treated with an antibiotic." | ( Fox, GN, 1983) |
"Maffucci's syndrome is a rare condition which is not hereditary." | ( Calderoni, P; Innao, V; Zocchi, D, 1983) |
"Revascularization syndrome is one of the dangerous postoperative complications which results sometimes in loss of a limb, renal shutdown and death due to myoglobin-nephrosis and hyperkalemia." | ( Ban, I; Hirai, M; Matsubara, J; Ohta, T; Shionoya, S, 1983) |
"Warburg syndrome is a congenital oculocerebral disorder." | ( Gould, N; Gray, DL; Levine, RA; Pergament, E; Stillerman, ML, 1983) |
"Although Isaacs syndrome is known by several names including neuromyotonia and quantal squander, it bears some resemblence to other syndromes characterized by muscular stiffness such as stiff-man syndrome." | ( Brown, TJ, 1984) |
"The syndrome is self-limited." | ( Flaherty, RJ, 1984) |
"The syndrome is manifested by hyperchloremic metabolic acidosis often associated with hypokalemia." | ( Batlle, D; Kurtzman, NA, 1982) |
"Tumour lysis syndrome is a well-known complication of lymphoid malignancies, but it has rarely been described in myeloproliferative disorders." | ( Cervantes, F; Grañena, A; Montserrat, E; Ribera, JM; Rozman, C, 1982) |
"Ruder syndrome is an unusual varient of adrenal hyperfunction characterized clinically by debilitating osteopenia, and pathologically by bilateral micronodular adrenal hyperplasia." | ( Landis, B; Sacks, SA, 1983) |
"The blind pouch syndrome is a series of symptoms associated with blind pouch formation, secondary to a side-to-side intestinal anastomosis." | ( Maglinte, DD; Schlegel, DM, 1982) |
"This new syndrome is called after the diviner Manto, quoted by Dante Alighieri in his 'Divina Commedia' (Inferno, XX, 52-56)." | ( Disertori, B; Ducati, A; Pavani, M; Piazza, M, 1982) |
"Small left colon syndrome is reported in 2 sets of twins." | ( Beck, J; Cohen, MD; Harper, J; Weber, T, 1982) |
"This syndrome is distinguishable from other childhood rheumatic disorders, including juvenile rheumatoid arthritis." | ( Petty, RE; Rosenberg, AM, 1982) |
"The Tn-syndrome is an acquired disorder characterized by the polyagglutination of blood cells and the pathological exposure of alpha-N-acetyl-D-galactosamine residues (Tn-antigen) at the cell surface." | ( Cartron, JP; Dupuis, D; Kieffer, N; Kunicki, TJ; Nurden, AT; Pidard, D, 1982) |
"Kawasaki syndrome is a newly described, acute symptom complex of children that has a predictable clinical course." | ( Melish, ME, 1981) |
"The sinus tarsi syndrome is now a well-defined entity of foot pathology." | ( Blanc, Y; Garcia, J; Meyer, JM; Taillard, W, 1981) |
"Cronkhite-Canada syndrome is a nonfamilial form of diffuse gastrointestinal polyposis associated with ectodermal abnormalities of alopecia, and hyperpigmentation." | ( Kilcheski, T; Kressel, HY; Laufer, I; Rogers, D, 1981) |
"The fetal hydantoin syndrome is a variable pattern of altered growth (pre and postnatal), mental deficiency, unusual facies, distal phalangeal hypoplasia, and other defects occurring in some infants exposed in utero to hydantoins." | ( Cabezuelo-Huerta, G; Frontera-Izquierdo, P; Mulas, F, 1981) |
"Multiple hamartoma syndrome is a genodermatosis with autosomal-dominant inheritance." | ( Allen, BS; Fitch, MH; Smith, JG, 1980) |
"Presumably, the syndrome is secondary to biochemical dysfunction of the basal ganglia and possible of the hypothalmus." | ( McCormick, WF; Morris, HH; Reinarz, JA, 1980) |
"The iris naevus syndrome is now thought to represent one end of the clinical spectrum of an iridocorneal endothelial syndrome which also includes those clinical entities classified previously as Chandler's syndrome and essential iris atrophy." | ( Eagle, RC; Fine, BS; Font, RL; Yanoff, M, 1980) |
"The Marcus Gunn Syndrome is discussed." | ( Kwik, RS, 1980) |
"The epileptic syndrome is characterized by an increase in CSF of cystidin, thyrosine and methionine." | ( Krivopusk, ME, 1980) |
"The clenched fist syndrome is an entity in which the patient keeps one or both hands tightly clenched." | ( Simmons, BP; Vasile, RG, 1980) |
"The Cohen Syndrome is a rare genetic disorder consisting of obesity, mental retardation, limb abnormalities and characteristic craniofacial appearance." | ( Friedman, E; Sack, J, 1980) |
"Shwachman's syndrome is a rare congenital disorder associated with neutropenia and exocrine pancreatic insufficiency." | ( Escudier, SM; Seymour, JF, 1993) |
"The metabolic syndrome is discussed in terms of insulin resistance linked to an increased regulation of metabolism by cortisol and fatty acids." | ( Brindley, DN, 1995) |
"The "coup de fouet" syndrome is an uncommon condition characterized by a spontaneous intramuscular venous hemorrhage of the calf, sometimes accompanied by a deep thrombosis of the leg." | ( Antignani, PL; Bartolo, M; Di Fortunato, T; Todini, AR, 1995) |
"Serotonin syndrome is a potentially life-threatening complication of psychopharmacologic drug therapy." | ( Mills, KC, 1995) |
"This syndrome is caused by focal, bilateral cortical damage to the anterior opercular regions resulting in anarthria and impairment of mastication and swallowing." | ( Haenggeli, CA; Overweg-Plandsoen, WC; van der Poel, JC, 1995) |
"Hepatopulmonary syndrome is a complication of chronic liver disease in which arterial hypoxemia results from abnormalities in pulmonary blood flow." | ( Johnson, SP; Lang, KA; Riegler, JL; Westerman, JH, 1995) |
"Serotonin syndrome is expected to occur more frequently with the increased use of specific serotonin reuptake inhibitors in the treatment of depression." | ( Bjørndal, F; Karle, J, 1995) |
"The hand-foot syndrome is a benign self-limiting condition seen in young children with sickle-cell haemoglobinopathy, usually at the time of a crisis." | ( Babhulkar, S; Babhulkar, SS; Pande, K, 1995) |
"Hand-arm vibration syndrome is an occupational disease induced by long-term use of vibratory tools such as rock drills and chain saws." | ( Matoba, T, 1994) |
"Vibration syndrome is generally considered to consist of disorders in the upper extremities which are directly exposed to vibration." | ( Sakakibara, H, 1994) |
"Orbital infarction syndrome is a rare complication of neurosurgical procedures." | ( Anand, R; Golnik, KC; Kopitnik, TA; Van Patten, PD; Zimmerman, CF, 1995) |
"Fraser syndrome is a rare autosomal recessive disorder whose major manifestations are cryptophthalmos, syndactyly and genital abnormalities." | ( Karas, DE; Respler, DS, 1995) |
"The Tn syndrome is an acquired form of persistent mixed-field polyagglutination displaying two distinct populations of Tn positive (Tn) and Tn negative (tn) red blood cells (RBCs)." | ( Ikemoto, S; Kajii, E; Omi, T, 1994) |
"Ovarian remnant syndrome is an uncommon problem that may follow bilateral oophorectomy." | ( Beatse, SN; Illions, EH; Scott, RT; Snyder, RR, 1995) |
"The syndrome is transmitted in an autosomal dominant pattern." | ( Abreo, K; Gadallah, MF; Work, J, 1995) |
"Dhat syndrome is a culture-bound neurotic disorder seen in the Indian subcontinent." | ( Chadda, RK, 1995) |
"The Landau-Kleffner syndrome is sometimes associated with continuous spike-waves during slow-wave sleep." | ( Chugani, HT; Rintahaka, PJ; Sankar, R, 1995) |
"Cyclical vomiting syndrome is an uncommon, disabling symptom complex of unknown cause, with features in common with migraine." | ( Forbes, D, 1995) |
"Muckle-Wells syndrome is a rare autosomal dominant disorder characterized by chronic recurrent urticaria, periodic arthritis, sensorineural deafness, general signs of inflammation, and secondary amyloidosis (AA type)." | ( Berthelot, JM; David, A; Maugars, Y; Pascal, O; Prost, A; Robillard, N; Stalder, JF, 1994) |
"Blau's syndrome is a familial multisystem granulomatous inflammation which may be confused with childhood sarcoidosis because it presents with iridocyclitis, posterior uveitis, granulomatous skin disease, arthritis and elevated serum angiotensin-converting enzyme." | ( James, DG, 1994) |
"Netherton's syndrome is a rare symptom complex characterized by greatly elevated IgE levels with atopic manifestations, an ichthyotic skin disorder (ichthyosis linearis circumflexa and/or congenital lamellar ichthyosis), and the characteristic hair abnormality trichorrhexis invaginata." | ( deShazo, RD; Smith, DL; Smith, JG; Wong, SW, 1995) |
"Watson's syndrome is an uncommon genetic disorder whose features include mental retardation and pulmonary valvular stenosis." | ( Conway, JB; Posner, M, 1994) |
"The syndrome is potentially fatal, and the authors stress that the condition needs to be recognized as a preventable hazard of air travel." | ( Mohler, SR; Sahiar, F, 1994) |
"Cheiro-oral syndrome is frequently associated with other neurologic deficits; its pure form is rare." | ( Chu, NS; Huang, MH, 1994) |
"18p-syndrome is caused by a chromosomal deletion, and presents with a wide variety of clinical appearances." | ( Kakinuma, S; Morimatsu, M; Negoro, K; Nogaki, H; Sasabe, F, 1994) |
"The urethral syndrome is very frequent in women but the etiology is unknown." | ( Costantini, E; Parziani, S; Petroni, PA; Porena, M; Ursini, M, 1994) |
"The TUR syndrome is a clinical disorder consisting of circulatory, gastrointestinal, and neurologic signs that are infrequently seen in some patients undergoing endoscopic surgery of the prostate gland with the use of nonconductive irrigating fluids." | ( Barletta, JP; Fanous, MM; Hamed, LM, 1994) |
"Barth syndrome is an X-linked recessive condition characterized by skeletal myopathy, cardiomyopathy, proportionate short stature, and recurrent neutropenia, but with normal cognitive function." | ( Becker, LE; Bridge, PJ; Christodoulou, J; Clarke, JT; Jay, V; Lehotay, DC; McInnes, RR; Platt, BA; Robinson, BH; Wilson, G, 1994) |
"Cogan's syndrome is characterized by a non-luetic interstitial keratitis associated with vertigo, tinnitus and profound deafness." | ( Corridan, PG; Emery, P; Honan, WP; Luqmani, RA; Murray, PI; Shah, P, 1994) |
"Andersen's syndrome is a clinically distinct form of potassium-sensitive periodic paralysis associated with cardiac dysrhythmias." | ( DeVivo, DC; Griggs, RC; Ozdemir, C; Pavlakis, SG; Penn, AS; Ptacek, LJ; Tawil, R, 1994) |
"Sneddon syndrome is defined as a clinical entity consisting of livedo racemosa generalisata (LRG) and cerebrovascular lesions, which often lead to physical and mental handicaps." | ( Biersack, HJ; Grünwald, F; Hotze, AL; Menzel, C; Reinhold, U; Rieker, O; Uerlich, M; von Smekal, A, 1994) |
"A rare case of AEC syndrome is presented." | ( Ohtsuka, S; Onizuka, T; Satoh, K; Tosa, Y, 1994) |
"Pigment dispersion syndrome is thought to be the result of iris pigment abrasion by zonular packets." | ( Flammer, J; Hendrickson, P; Orgül, S, 1994) |
"Setleis' syndrome is recessively inherited, and is characterized by similar bitemporal defects associated with other dysmorphic features, including deficient eyelashes and a prominent upper lip." | ( Moss, C; Ward, KA, 1994) |
"Acute ischemic syndromes are the most prominent gastrointestinal complication of cocaine use." | ( Das, G; Gourgoutis, G, 1994) |
"Binder's syndrome is the most common of such deformities, where the noise is both short and lacking tip projection." | ( Banks, P; Tanner, B, 1993) |
"Reifenstein syndrome is an eponymic term that describes partial androgen-insensitive disorders." | ( Cato, AC; Denninger, A; Kaspar, F; Klocker, H, 1993) |
"McLeod syndrome is an Xp21-linked Kell blood group variant due to lack of erythrocyte protein Kx with associated RBC membrane dysfunction such as acanthocytosis." | ( Danek, A; Tatsch, K; Uttner, I; Vogl, T; Witt, TN, 1994) |
"The urethral syndrome is probably the most frequent reason for urological consultation among women." | ( Susset, J, 1993) |
"Hay-Wells syndrome is an autosomal dominant condition characterized by ankyloblepharon filiforme adnatum, ectodermal dysplasia, and cleft palate with or without associated cleft lip (AEC syndrome)." | ( Stephan, MJ; Sybert, VP; Vanderhooft, SL, 1993) |
"Rapp-Hodgkin syndrome is an autosomal dominant condition characterized by cleft lip and palate, peculiar craniofacial features, and ectodermal dysplasia, consisting of abnormalities of teeth, hair, nails and sweating." | ( Barbareschi, M; Cambiaghi, S; Caputo, R; Menni, S; Tadini, G, 1994) |
"This syndrome is characterised by lymphadenopathy, fever and a generalised rash." | ( Froeling, PG; Rondas, AA, 1993) |
"The Lennox-Gastaut syndrome is a childhood disorder characterized by multiple types of seizures, mental retardation, characteristic electroencephalographic abnormalities, and resistance to standard antiepileptic drugs." | ( , 1993) |
"This syndrome is similar to acute radiation nephritis." | ( Ash, RC; Becker, CG; Cohen, EP; Lawton, CA; Moulder, JE, 1993) |
"Carpenter's syndrome is a relatively rare craniofacial deformity which will occasionally present to craniofacial surgeons for treatment." | ( Poole, MD, 1993) |
"The most common syndrome is childhood absence epilepsy; it usually occurs in the age range of 6-7 years." | ( Porter, RJ, 1993) |
"Byler's syndrome is a rare form of autosomal recessive intrahepatic cholestasis that is fatal in children." | ( Erbas, B; Erbengi, G; Haberal, M; Simsek, H; Telatar, H, 1993) |
"Liddle's syndrome is an inherited form of hypertension caused by mutations that truncate the C-terminus of human epithelial Na+ channel (hENaC) subunits." | ( Adams, CM; McDonald, FJ; Price, MP; Snyder, PM; Stokes, JB; Volk, KA; Welsh, MJ; Zeiher, BG, 1995) |
"However, these syndromes are often difficult to diagnose precisely because their clinical and pathologic characteristics are not specific and resemble changes in other myopathies." | ( Choksi, R; Connolly, AM; Mehta, S; Pestronk, A; Planer, GJ; Yue, J, 1996) |
"Olmsted syndrome is a rare disorder characterized by a mutilating palmoplantar keratoderma and periorificial keratotic plaques." | ( Cohen, B; Falo, L; Jegasothy, BV; Kim, B; Kress, DW; Seraly, MP, 1996) |
"Blau syndrome is a granulomatous disease with dominant autosomal transmission." | ( Bourrillon, A; Hayem, F; Moraillon, I; Morel, P; Rybojad, M, 1996) |
"Asperger's Syndrome is a distinct variant of autism, with a prevalence rate of 10 to 26 per 10,000 of normal intelligence, and 0." | ( Kasmini, K; Zasmani, S, 1995) |
"ICE syndrome is considered as unilateral, although cases of bilateral involvement of the same variant have been described." | ( Barak, A; Huna, R; Melamed, S, 1996) |
"This syndrome is particularly seen immediately following the restoration of blood flow to the severely damaged leg and characterized by renal as well as systemic organs disorder." | ( Nakajima, N, 1996) |
"Brooke-Spiegler syndrome is characterized by the development of multiple trichoepitheliomas and cylindromas." | ( Kind, P; Plewig, G; Schirren, CG; Wörle, B, 1995) |
"Seckel syndrome is a rare, recessively inherited disorder of severe growth retardation and distinct craniofacial, orodental, and skeletal anomalies." | ( Buebel, MS; Greer, MK; Macpherson, RI; Pai, GS; Perez-Comas, A; Salinas, CF, 1996) |
"Gitelman syndrome is a mostly autosomal recessive disorder affecting the renal tubular function associated with hypokalemia and hypomagnesemia." | ( Hebert, SC; Knoers, NV; Lemmink, HH; Merkx, GF; Monnens, LA; Smilde, TJ; Taschner, PE; van den Heuvel, LP; van Dijk, HA, 1996) |
"Empty follicle syndrome is associated with very low bioavailability of beta-hCG and can be predicted by measuring serum beta-hCG level 36 hours after IM hCG administration." | ( al-Hassan, S; Dowell, K; Fishel, S; Hunter, A; Ndukwe, G; Thornton, S, 1996) |
"The serotonin syndrome is a potentially severe adverse drug interaction characterized by the triad of altered mental status, autonomic dysfunction, and neuromuscular abnormalities." | ( Martin, TG, 1996) |
"The epidermal nevus syndrome is characterized by the association of epidermal nevi with abnormalities of the skin, skeletal system, central nervous system, eyes, and cardiovascular system, as well as with malignant conditions." | ( Ganong, CA; Klingensmith, GJ; Tay, YK; Weston, WL, 1996) |
"Evans syndrome is a rare disease defined as autoimmune hemolytic anemia plus immune thrombocytopenia." | ( Moriguchi, T; Tsudo, M, 1996) |
"Kindler syndrome is a genodermatosis that combines clinical features of hereditary epidermolysis bullosa and poikiloderma congenitale." | ( Haber, RM; Hanna, WM, 1996) |
"Nijmegen breakage syndrome is characterized by a variable T cell and B cell immunodeficiency, growth failure, and an increased risk of malignancy." | ( Lederman, H; Lees-Miller, SP; Sullivan, KE; Veksler, E, 1997) |
"Post-reperfusion syndrome is the most common hemodynamic pattern in liver transplantation, manifesting mainly through decreased heart rate, mean arterial pressure and systemic vascular resistances." | ( Acosta, F; Sabaté, A, 1996) |
"The serotonin syndrome is characterized by neuromuscular, behavioural, and autonomic changes." | ( Cabot, C; Cathala, B; Fabre, M; Robert, P; Senard, JM, 1996) |
"Serotonin syndrome is a toxic hyperserotonergic state that develops soon after initiation or dosage increments of the offending agent." | ( Blackburn, KH; Mason, BJ, 1997) |
"The serotonin syndrome is frequently characterized by minor neurologic manifestations that regress rapidly (such as confusion, tremor, ." | ( Desachy, A; François, B; Gastinne, H; Lachatre, G; Marquet, P; Roustan, J, 1997) |
"These headache syndromes are compared with other short-lasting headache disorders, such as hypnic headache, and persistent headache with milder autonomic features such as hemicrania continua." | ( Goadsby, PJ; Lipton, RB, 1997) |
"Carpal tunnel syndrome is mainly due to ergonomic factors other than vibration, but certain factors related to vibration may contribute to its development." | ( Gemne, G, 1997) |
"Toxic Oil Syndrome is a multisystemic disease that occurred in epidemic proportions in Spain in 1981 caused by the ingestion of rapeseed oil denatured with aniline." | ( Cárdaba, B; Cortegano, I; de Andrés, B; del Pozo, V; Gallardo, S; Jurado, A; Lahoz, C; Palomino, P; Tramón, P, 1997) |
"Ramsay Hunt's syndrome is an infectious cranial polyneuropathy caused by varicella zoster, the herpetic virus that also causes chickenpox and shingles." | ( Geunes, PM; Schuman, NJ; Turner, JE, 1997) |
"Several clinical syndromes are characterized by ectodermal dysplasia (ED) in association with clefting of the lip and/or palate." | ( Burg, G; Müller, J; Spycher, MA; Trüeb, RM; Tsambaos, D, 1997) |
"Liddle's syndrome is an autosomal dominant form of hypertension that resembles primary hyperaldosteronism, is characterized by the early onset of hypertension with hypokalemia and suppression of both PRA and aldosterone, and is caused by mutations in the carboxyl-terminus of the beta- or gamma-subunits of the renal epithelial sodium channel." | ( Findling, JW; Hansson, JH; Lifton, RP; Raff, H, 1997) |
"Segawa's syndrome is a hereditary progressive dystonia with diurnal fluctuation, which in contrast to other chronic dystonia in childhood responds dramatically to levodopa therapy." | ( Hagay, Z; Lurie, S; Priscu, V, 1996) |
"Malignant syndrome is a disease characterized by high fever, extrapyramidal syndrome and dysautonomia recognized during or at the time of stopping administration of antipsychotic medication and it is the most severe and lethal side effect of antipsychotic medication." | ( Fujimoto, K; Konishi, K; Kubota, M; Ogawa, H, 1997) |
"Hypersensitivity syndromes are severe drug induced side effects with skin rashes, fever and/or multiorgan-system abnormalities which are not pharmacologically related." | ( Pichler, WJ; Schnyder, B; Zanni, MP, 1997) |
"Satoyoshi syndrome is a rare disorder of unknown etiology characterized by progressive, painful intermittent muscle spasms, severe skeletal abnormalities mimicking a skeletal dysplasia, malabsorption, alopecia, and amenorrhea." | ( Ehlayel, MS; Haymon, M; Lacassie, Y; Willis, RB, 1997) |
"SUNCT syndrome is in the differential diagnosis when encountering unilateral, orbital/periorbital headache syndromes." | ( Pareja, JA; Sjaastad, O, 1997) |
"The ocular ischemic syndrome is a rare constellation of ocular signs and symptoms that are secondary to severe carotid artery stenosis." | ( Bennett, LW, 1997) |
"Gitelman's syndrome is characterised by hypokalaemia, hypomagnesaemia and tetany." | ( Leonard, MB; Neithercut, D, 1997) |
"Body-packer syndrome is seen in people concealing drugs in special containers within the body; this may lead to rupture with acute intoxication or to ileus." | ( Bakker, FC; Haarman, HJ; Maats, CJ; Schreuder, WO; Siebenga, J; Teijink, JA, 1997) |
"Knowing serotonin syndrome is useful both for prevention and for recognizing it as a potentially lethal emergency." | ( Baubet, T; Peronne, E, 1997) |
"Recognizing these syndromes is not only useful to determine the possible causes of on intoxication, but also to direct appropriate, specific therapeutic interventions." | ( Baud, FJ; Bekka, FR; Lapostolle, F; Pegaz-Fiornet, B, 1997) |
"The TUR syndrome is well described after transurethral resection of the prostate." | ( Boyle, JR; Kelly, MJ; Lopez, B; Thompson, MM; Twist, MH, 1997) |
"The syndrome is characterized by paramedian facial clefts which involve the nose and palpebral fissures resulting in defects of the alae nasi and blepharophimosis, lagophthalmos, and S-shaped palpebral fissures." | ( Clark, B; David, D; Suthers, G, 1997) |
"Serotonin syndrome is a potentially life-threatening complication of psychopharmacological drug therapy." | ( Hilton, SE; Maradit, H; Möller, HJ, 1997) |
"The syndrome is due to a deficiency of the renal enzyme 11-beta-hydroxysteroid dehydrogenase type II, which protects the mineralocorticoid receptor against cortisol that binds to the mineralocorticoid receptor like aldosterone." | ( Hensen, J; Oelkers, W, 1997) |
"The Baboon syndrome is uncommon among children." | ( Goossens, C; Sass, U; Song, M, 1997) |
"The serotonin syndrome is characterized by mental status changes and a variety of autonomic and neuromuscular manifestations." | ( LoCurto, MJ, 1997) |
"Pulmonary renal syndrome is encountered in several diseases such as Goodpasture's syndrome, antineutrophil cytoplasmic antibody (ANCA) associated systemic vasculitis, systemic lupus erythematosus (SLE) and infection-associated or drug-induced glomerulonephritis." | ( Bygren, PG; Eilert, I; Westman, KW; Wieslander, J; Wiik, A, 1997) |
"Serotonin syndrome is the result of the drug interaction that enhances serotonergic tone in the central nervous system." | ( Molaie, M, 1997) |
"Serotonin syndrome is characterized by varied degrees of cognitive, autonomic, and neuromuscular dysfunction and can only be produced by drug therapy that increases central nervous system serotonin neurotransmission." | ( Mills, KC, 1997) |
"Barth syndrome is an X-linked cardiomyopathy with neutropenia and 3-methylglutaconic aciduria." | ( Cox, GF; Feigenbaum, A; Funanage, VL; Iyer, GS; Johnston, J; Kelley, RI; Proujansky, R, 1997) |
"Joubert syndrome is characterized by episodic hyperpnea and apnea, developmental delay, hypotonia, truncal ataxia, ophthalmologic abnormalities, and vermian dysgenesis." | ( Booth-Jones, M; Creel, G; Fennell, EB; Frerking, B; Hamed, LM; Hoang, KB; Hove, MT; Mancuso, AA; Maria, BL; Quisling, RG; Ringdahl, DM; Tusa, RJ; Yachnis, AT, 1997) |
"The syndrome is characterised by sodium retention and hypervolemia despite low plasma renin activity and aldosterone levels." | ( Caillette, A; Corvol, P; Fiet, J; Krozowski, Z; Marc, JM; Morineau, G; Pascoe, L, 1997) |
"The Scott syndrome is a rare inherited haemorrhagic disorder characterized by the inability of blood cells to expose aminophospholipids and to shed microparticles." | ( Dachary-Prigent, J; Fressinaud, E; Freyssinet, JM; Nurden, AT; Pasquet, JM; Toti, F, 1997) |
"The alien hand syndrome is an involuntary motor phenomenon that occurs infrequently and mostly in stroke patients." | ( Gorelick, PB; Nicholas, JJ; Ramsey, MM; Wichner, MH, 1998) |
"Raynaud's syndromes are frequent (12." | ( Beck-Wirth, G; Chakfe, N; Fraisse, P; Grunebaum, L; Lang, JM; Partisani, ML; Rey, D; Sibilia, J; Wiesel, ML, 1997) |
"Susac syndrome is an occlusive arteriolar disease that provokes infarcts in the cochlea, retina, and brain of young subjects, mostly women." | ( Aumaitre, O; Biousse, V; Bousser, MG; Fardeau, C; Godeau, P; Huong, DL; Lehoang, P; N'Guyen, N; Papo, T; Piette, JC, 1998) |
"Scott syndrome is an hereditary bleeding disorder characterized by a deficiency in platelet procoagulant activity." | ( Bevers, EM; Billheimer, JT; Comfurius, P; Dekkers, DW; Dicker, I; Vuist, WM; Weiss, HJ; Zwaal, RF, 1998) |
"The syndrome is characterized by normal or low hematocrit and hemoglobin concentration, an elevated platelet count, and an increase in clotting factor turnover." | ( Heilmann, L; Hommel, G; Niemann, F; Schneider, D; von Tempelhoff, GF; Zoller, H, 1998) |
"Segawa's syndrome is a rare hereditary progressive dystonia with diurnal fluctuation, which, in contrast to other types of chronic dystonia in children, responds dramatically to levodopa therapy." | ( Hagay, Z; Lurie, S; Priscu, V; Rabinerson, D; Savir, I, 1998) |
"Two feet-one hand syndrome is also defined as bilateral plantar tinea pedis with coexistent unilateral tinea manuum." | ( Scher, RK; Seeburger, J, 1998) |
"Gitelman's syndrome is a rare autosomal recessive hereditary magnesium reabsorption defect in the distal tubule." | ( Schweizer, JJ; van Collenburg, JJ, 1997) |
"Löfgren's syndrome is acute sarcoidosis, characterized by arthritis, erythema nodosum, and bilateral hilar lymphadenopathy." | ( Akama, H; Hara, M; Ichikawa, N; Kashiwazaki, S; Koseki, Y; Nakajima, A; Nakajima, H; Taniguchi, A; Terai, C; Tokuda, H; Tsutsumino, M, 1998) |
"Retinoic acid syndrome is the major adverse effect of tretinoin and it occurs in about 25% of treated APL patients in the absence of prophylactic measures and is often fatal." | ( De Botton, S; Fenaux, P, 1998) |
"The clinical syndrome is characterized by shortlived febrile episodes, accompanied by inflammation in one of the serous membranes, resulting in peritonitis pleuritis or synovitis." | ( Pras, M, 1998) |
"Rieger's syndrome is a rare autosomal-dominant disorder characterized by dental, ocular, and periumbilical abnormalities." | ( John, R; Munshi, AK; Prabhu, NT, 1997) |
"Recognition of the syndrome is important in light of the potential for respiratory depression requiring ventilatory support." | ( Baxter, F; Choi, PT; Cook, DJ; Quinonez, LG; Whitehead, L, 1998) |
"Liddle's syndrome is an autosomal dominant form of salt sensitive hypertension caused by mutations in the beta or gamma subunit of the epithelial sodium channel." | ( Araki, M; Inoue, J; Iwaoka, T; Naomi, S; Takahama, K; Takamune, K; Tokunaga, H; Tomita, K; Yamaguchi, K, 1998) |
"Although Liddle's syndrome is generally considered an inherited hypertensive disease found in young people, a review of the literature indicated that muscle weakness is an important clinical finding in elderly patients with this disease." | ( Furukawa, K; Harada, T; Ikeda, S; Iwasaki, T; Kohno, S; Matsushita, M; Matsushita, T; Miyahara, Y; Miyazaki, M; Naito, T; Ogata, H; Ohzono, Y; Yakabe, K; Yamaguchi, K, 1998) |
"Hypnic headache syndrome is a rare benign disorder which occurs in the elderly." | ( Barreiro, P; Ivañez, V; Soler, R, 1998) |
"This rare form of syndrome is usually assumed to be autosomal dominant." | ( Cardoso, ER; Hawary, MB; Mahmud, S, 1998) |
"The etiology of the syndrome is autosomal recessive and siblings are frequently affected." | ( Ayala Garcés, A; Bermejo Sánchez, E; Calvo Celada, R; Félix, V; Hernández Ramón, F; Martínez-Frías, ML, 1998) |
"Gitelman's syndrome is a primary renal tubular disorder characterized by hypomagnesemia and hypocalciuria with normal calcemia." | ( Hashimoto, K; Hisakawa, N; Itoh, H; Jinnouchi, C; Nishiya, K; Takao, T; Yasuoka, N, 1998) |
"Scott syndrome is a rare inherited bleeding disorder in which platelets and other blood cells fail to promote normal assembly of the membrane-stabilized proteases of the plasma coagulation system." | ( Sims, PJ; Wiedmer, T; Zhou, Q, 1998) |
"Felty's syndrome is a rare disorder characterized as a systemic manifestation of severe rheumatoid arthritis associated with granulocytopenia and splenomegaly." | ( Herborn, G; Rau, R; Wassenberg, S, 1998) |
"Blau syndrome is a granulomatous disease of the skin, eyes, and joints, usually without visceral involvement." | ( Fischer, E; Ting, SS; Ziegler, J, 1998) |
"Kasabach-Merritt syndrome is a very rare disease of infancy, with profound thrombocytopenia and a mild to severe consumption coagulopathy; this biological phenomenon is difficult to control." | ( Dosquet, C; Drouet, L; Enjolras, O; Escande, JP; Fortier, G; Josset, P; Merland, JJ; Wassef, M, 1998) |
"The intermediate syndrome is confined to an abnormality of neuromuscular function in specific muscle groups: proximal limb muscles, neck flexors, motor cranial nerves and respiratory muscles, with difficult weaning from respiratory assistance." | ( Benslama, A; el Moknia, M; Fadel, H; Lahbil, D; Mjahed, K; Moutaouakkil, S, 1998) |
"Joubert syndrome is a rare and probably underdiagnosed syndrome with bad prognosis." | ( Calleja-Pérez, B; Fernández-Jaén, A; Martínez-Bermejo, A; Pascual-Castroviejo, I, 1998) |
"Acute coronary syndrome is caused by disruption of a coronary atherosclerotic plaque." | ( Akita, H; Yokoyama, M, 1998) |
"The syndrome is defined by the triad of fever, skin rash, and internal organ involvement." | ( Schlienger, RG; Shear, NH, 1998) |
"Bartter syndrome is characterized by hyperplasia of the renal juxtaglomerular apparatus, hyperaldosteronism, and hypokalemic alkalosis." | ( Castagna, G; Marchini, G; Parolini, B; Tosi, R; Zarbin, M, 1998) |
"The vibration syndrome is an often unrecognized occupational neurovascular disease with a prevalence of more than 70% in certain high-risk occupations." | ( Noël, B, 1998) |
"Fixed head malleus syndrome is a rare anatomoclinical entity first described by Goodhill in 1966." | ( Braccini, F; Bruzzo, M; Cacès, F; Chays, A; Magnan, J; Vallicioni, JM, 1998) |
"Other monogenic syndromes are currently being intensively studied." | ( Luft, FC, 1998) |
"Costello syndrome is characterized by postnatal growth deficiency, mental retardation, curly hair, coarse characteristic face, and loose skin of hands and feet." | ( Assadi, FK; Cafone, M; Fattori, DA; Hopp, L; McKay, CP; Nicholson, L; Scott, CI, 1999) |
"Pendred syndrome is the most common form of syndromic deafness and characterized by congenital sensorineural hearing loss and goitre." | ( Karniski, LP; Kreman, TM; Scott, DA; Sheffield, VC; Wang, R, 1999) |
"Aarskog syndrome is a rare syndrome with a typical triad of facial, digital and genital characteristics." | ( Duggal, R; Kabra, M; Kharbanda, OP; Reddy, P, 1999) |
"Seckel syndrome is a rare autosomal recessive disorder." | ( Abou-Zahr, F; Bacino, C; Bejjani, B; Kruyt, FA; Kurg, R; Shapira, SK; Youssoufian, H, 1999) |
"Cogan's syndrome is a rare clinical entity defined by the association of a nonsyphilitic interstitial keratitis and vestibuloauditory dysfunction, typically Menière's disease-like; the condition has been reported in association with a variety of cutaneous diseases." | ( Bedane, C; Bernard, P; Bonnetblanc, JM; Boulinguez, S; Labrousse, F; Lasudry, J, 1998) |
"Rowell's syndrome is the name given to a distinct group of patients with lupus erythematosus who develop erythema multiforme-like lesions and have a characteristic serological picture." | ( Child, FJ; Creamer, D; Kapur, N; Kobza Black, A, 1999) |
"HIDS and CINCA syndrome are not known to be modified by any effective therapeutic agent." | ( Breton, A; Carrière, JP; Chaix, Y; Claeyssens, S; Graber, D; Grouteau, E; Kuhlein, E, 1998) |
"Kasabach-Merritt syndrome is an infrequent combination of a giant hemangioma and severe thrombocytopenia." | ( Dupont, D; Golkar, A; Valla, JS; Velin, P, 1998) |
"This syndrome is a pathological entity of low incidence which mainly affects high density lipoprotein (HDL) metabolism." | ( Brites, FD; Castro, GR; Fernández, KM; Lardo, M; Wikinski, RL; Yael, MJ; Zunino, MJ, 1999) |
"Stickler syndrome is an autosomal dominant disorder with characteristic ophthalmological and orofacial features, deafness, and arthritis." | ( Snead, MP; Yates, JR, 1999) |
"The syndrome is characterised by fever, an itchy erythema with edema, confluent papules and purpura of the hands and feet in a "gloves and socks" distribution." | ( Ballmer-Weber, BK; Brand, CU; Hunziker, TK; van Rooijen, MM; Yawalkar, N, 1999) |
"The Parry-Romberg syndrome is an acquired progressive hemifacial atrophy involving the subcutaneous tissues of the scalp and face." | ( Chapman, MS; Peraza, JE; Spencer, SK, 1999) |
"May-Thurner syndrome is an uncommon process in which the right common iliac artery compresses the left common iliac vein, resulting in left iliofemoral deep vein thrombosis and severe leg edema." | ( Gagne, P; Seidensticker, D; Wilcox, J, 1998) |
"Andersen syndrome is a rare entity and comprises potassium sensitive periodic paralysis, ventricular arrhythmia, and an unusual facial appearance; syncope and sudden death have also been reported." | ( Beirana, LG; Canún, S; Pérez, N, 1999) |
"Johanson-Blizzard syndrome is a rare autosomal recessive disorder characterized by aplasia of alae nasi, pancreatic insufficiency, aplasia cutis, anorectal anomalies and postnatal growth restriction." | ( Abramovici, H; Auslander, R; Bardicef, M; Diukman, R; Morrad, E; Nevo, O, 1999) |
"Scott syndrome is an extremely rare inherited disorder of the migration of phosphatidylserine toward the exoplasmic leaflet of the plasma membrane of stimulated blood cells." | ( Dachary-Prigent, J; Fressinaud, E; Freyssinet, JM; Martin, S; Martínez, MC; Meyer, D; Toti, F, 1999) |
"The Brugada-Brugada syndrome is a rhythmologic disorder which can be diagnosed because of typical ECG criteria." | ( Borggrefe, M; Breithardt, G; Breuer, HW, 1999) |
"Metabolic syndrome is a clustering of many insulin resistance-associated cardiovascular risk factors such as hypertension, hypertriglyceridaemia, low high-density lipoprotein (HDL) cholesterol, abnormal glucose metabolism and hyperinsulinaemia." | ( Vanhala, M, 1999) |
"These syndromes are associated with damage to optic structures and the visual pathways which traverse the brain." | ( Caddell, JL; Graziani, LJ; Hsieh, HC; Mansmann, HC; Wiswell, TE, 1999) |
"Löfgren's syndrome is usually a self-limiting form of sarcoidosis." | ( Gómez-Vaquero, C; Mañá, J; Manresa, F; Marcoval, J; Montero, A; Pujol, R; Salazar, A; Valverde, J, 1999) |
"This syndrome is caused by ectopic expression of Agouti in multiple tissues." | ( Claycombe, KJ; Moussa, NM, 1999) |
"Bartsocas-Papas syndrome is a rare popliteal pterygial syndrome with multiple anomalies including microcephaly, facial clefts, filiform bands, ankyloblepharon, syndactyly, and other ectodermal anomalies." | ( Erk, Y; Karamürsel, S; Mavili, ME; Vargel, I, 1999) |
"The Brugada syndrome is characterized by marked ST-segment elevation in the right precordial ECG leads and is associated with a high incidence of sudden and unexpected arrhythmic death." | ( Antzelevitch, C; Yan, GX, 1999) |
"The Tn-syndrome is acquired and permanent and affects both sexes at any age." | ( Berger, EG, 1999) |
"This syndrome is characterized by low birthweight, congenital heart disease, microcephaly, childhood growth failure, and cognitive impairment." | ( Kesby, G, 1999) |
"Although these syndromes are genetic models of nephropathy and the mutations of WT1 gene are characterized in these patients the mechanism how mutations of WT1 gene affect the embryonic kidney adversely has not been elucidated." | ( Bang, EH; Hwang, HZ; Jin, DK; Kang, SJ; Kim, SJ; Kohsaka, T; Tadokoro, K; Yamada, M, 1999) |
"This headache syndrome is compared with trigeminal neuralgia involving the first branch of the nerve." | ( Goas, JY; Lanusse, S; Rouhart, F; Senechal, O, 1999) |
"Brugada syndrome is a hereditary cardiac disease causing abnormal ST segment elevation in the ECG, right bundle branch block, ventricular fibrillation and sudden death." | ( Baroudi, G; Carbonneau, E; Chahine, M; Pouliot, V, 2000) |
"The syndrome is devastating and rare, and controlled studies of its etiology and management are lacking." | ( Browder, W; Canady, J; Gordon, SV; Knight, TT; Rush, DS, 2000) |
"Insulin resistance syndrome is the theory that glucose intolerance, hyperinsulinemia, increased very low density lipoprotein triglyceride level, decreased high density lipoprotein cholesterol level, and hypertension are proposed consequences of insulin resistance." | ( Shimamoto, K, 2000) |
"Costello syndrome is characterized by mental retardation, loose skin, coarse face, skeletal deformations, cardiomyopathy, and predisposition to numerous malignancies." | ( Callahan, JW; Cutiongco, EM; Gripp, KW; Hinek, A; Smith, AC; Weksberg, R, 2000) |
"Pendred's syndrome is an autosomal recessive disorder characterized by goitre, sensorineural deafness and iodide organification defect." | ( Bartalena, L; Berrettini, S; Bogazzi, F; Campomori, A; Cosci, C; La Rocca, R; Martino, E; Neri, E; Raggi, F; Ronca, G; Ultimieri, F, 2000) |
"This syndrome is characterized by obesity, mild mental retardation, delayed puberty, acanthosis nigricans and hyperinsulinaemia." | ( Black, MM; Brenton, DP; Darley, CR; Lee, PJ; Sonksen, PH; Woollons, A, 2000) |
"Insulin resistance syndrome is the theory that glucose intolerance, hyperinsulinemia, increased very low density lipoprotein triglyceride level, decreased high density lipoprotein cholesterol level, and hypertension are proposed consequences of insulin resistance." | ( Shimamoto, K, 2000) |
"Shwachman-Diamond syndrome is a rare disorder of unknown cause." | ( Corey, M; Durie, PR; Ellis, L; Ginzberg, H; Goobie, S; Morrison, J; Rommens, JM; Shin, J, 2000) |
"The numb chin syndrome is characterized by facial numbness along the distribution of the mental branch of the trigeminal nerve." | ( Halachmi, S; Madeb, R; Madjar, S; Nativ, O; River, Y; Wald, M, 2000) |
"Cogan I syndrome is a rare, inflammatory, systemic disease that is typically characterized by severe audiovestibular dysfunction and various inflammatory eye changes." | ( Bless, D; Daikeler, T; Koitschev, A; Kötter, I; Schlote, T; Stübiger, N; Zierhut, M, 2000) |
"Char syndrome is an autosomal dominant trait characterized by patent ductus arteriosus, facial dysmorphism and hand anomalies." | ( Burn, J; Davidson, HR; Diaz, GA; Gelb, BD; Goodship, J; Pierpont, ME; Satoda, M; Zhao, F, 2000) |
"Hypersensitivity syndrome is a specific severe idiosyncratic reaction causing skin, liver, joint, and haematological abnormalities, which usually resolve after the discontinuation of the implicated drug." | ( Elisaf, MS; Milionis, HJ; Skopelitou, A, 2000) |
"The GAPO syndrome is a rare but distinct genetic disorder." | ( Abid, R; Elandaloussi, H; Ezzine, N; Fazaa, B; Goucha, S; Jaber, K; Kamoun, MR, 2000) |
"Rasmussen's syndrome is characterized by intractable seizures and progressive neuropsychiatric deterioration secondary to unilateral cortical inflammation and tissue destruction." | ( Dinçer, A; Ozek, MM; Pamir, MN; Sav, A; Türkdogan-Sözüer, D, 2000) |
"Muir-Torre syndrome is a genodermatosis in which multiple internal malignancies are associated with cutaneous sebaceous tumours and kerato-acanthomas." | ( Burgdorf, W; Graefe, T; Schulz, H; Wollina, U, 2000) |
"Rieger syndrome is an autosomal dominant condition characterized by a variable combination of anterior segment dysgenesis, dental anomalies, and umbilical hernia." | ( Black, GC; Churchill, A; Clayton-Smith, J; Hanson, I; Kerr, B; Lloyd, IC; McKeown, C; Perveen, R; Super, M; Taylor, D; van Heyningen, V; Winter, R, 2000) |
"Brooke-Spiegler syndrome is an autosomal dominant inherited disease characterized by the development of multiple trichoepitheliomas and cylindromas." | ( Bártolo, E; Martins, C, 2000) |
"Gitelman's syndrome is an autosomal recessive disorder characterized by electrolyte disturbances and low blood pressure." | ( Bengtsson, K; Groop, L; Hulthén, UL; Lindblad, U; Melander, O; Orho-Melander, M; Râstam, L, 2000) |
"Axenfeld-Rieger syndrome is a term that can be used to describe a variety of overlapping phenotypes." | ( Alward, WL, 2000) |
"Stickler syndrome is a dominantly inherited disorder characterized by arthropathy, midline clefting, hearing loss, midfacial hypoplasia, myopia, and retinal detachment." | ( Baguley, DM; Harper, PS; Lane, C; Nicol, M; Richards, AJ; Scott, JD; Snead, MP; Yates, JR, 2000) |
"Gitelman's syndrome is a renal tubular disorder characterized by a sodium and chloride reabsorption defect in distal tubular cells that determines hypokalemia, metabolic alkalosis, hypomagnesemia, and low calcium excretion." | ( Jansen, A; Pierro, L; Soldati, L; Vezzoli, G, 2000) |
"Brugada syndrome is an inherited cardiac disease that causes sudden death related to idiopathic ventricular fibrillation in a structurally normal heart." | ( Balser, JR; George, AL; Kitabatake, A; Makita, N; Wang, DW, 2000) |
"Cerebro-oculo-nasal syndrome is a rare multiple congenital anomaly syndrome with structural anomalies of the central nervous system, anophthalmia, and abnormal nares." | ( Guion-Almeida, ML; Kokitsu-Nakata, NM; Richieri-Costa, A, 2000) |
"Larsen syndrome is characterized by multiple congenital joint dislocations, typical skeletal defects and facial dysmorphism." | ( De Smet, L; Fabry, G; Frints, SG; Fryns, JP, 2000) |
"Cauda equina syndrome is a permanent disability." | ( Gaiser, RR, 2000) |
"Hyponic headache syndrome is an unusual chronic headache that usually begins after age 60 years and occurs exclusively during sleep." | ( Dodick, DW, 2000) |
"Gitelman syndrome is an inherited renal disorder characterized by impaired NaCl reabsorption in the distal convoluted tubule and secondary hypokalemic alkalosis." | ( Bonzel, KE; Jeck, N; Konrad, M; Peters, M; Seyberth, HW; Weber, S, 2000) |
"Cogan's syndrome is a rare, multisystem disease which occurs predominantly in children and young adults." | ( Bhathal, P; Jennens, I; McColl, G; Van Doornum, S; Walter, M; Wicks, IP, 2001) |
"Scott syndrome is an extremely rare inherited disorder of the transmembrane migration of phosphatidylserine toward the exoplasmic leaflet in blood cells." | ( Freyssinet, JM; Kerbiriou-Nabias, D; Laude-Lemaire, I; Martin, S; Martínez, MC, 2000) |
"Brugada syndrome is characterized by an ST segment elevation in leads V1-V3 and a high incidence of ventricular fibrillation (VF)." | ( Aihara, N; Antzelevitch, C; Kamakura, S; Kurita, T; Shimizu, W; Sunagawa, K; Suyama, K; Taguchi, A; Takaki, H, 2000) |
"Lemierre's syndrome is a rare fulminant condition caused by an acute oropharyngeal infection, with secondary septic thrombophlebitis of the internal jugular vein complicated by multiple metastatic infections." | ( Leibovici, O; Mishal, J; Sherer, Y, 2000) |
"Orbital infarction syndrome is defined as ischemia of all intraorbital and intraocular structures." | ( Chung, J; Kim, KB; Kim, SY; Yang, SW, 2000) |
"Hypersensitivity syndrome is defined as a drug-induced complex of symptoms consisting of fever, rash, and internal organ involvement." | ( Bergman, R; Eilam, O; Hayek, T; Raz, A; Yungerman, T, 2001) |
"Loose anagen hair syndrome is a recently described hair disorder." | ( Azzouzi, S; Habibeddine, S; Khadir, K; Lakhdar, H; Van Neste, D, 2001) |
"Liddle's syndrome is a rare form of hereditary hypertension caused by mutations of the epithelial sodium (Na(+)) channel (ENaC)." | ( Dohi, K; Enomoto, N; Hashimoto, K; Koga, M; Marumo, F; Sasaki, S; Takeda, Y; Uchida, S; Yamano, S; Yamashita, Y, 2001) |
"The metabolic syndrome is characterized by a clustering of cardiovascular risk factors including type 2 diabetes mellitus, hypertension, dyslipidemia, and obesity." | ( Chan, JC; Chan, TY; Cockram, CS; Critchley, JA; Lee, ZS; Thomas, GN; Tomlinson, B; Young, RP, 2001) |
"Alstrom syndrome is a very rare autosomal recessive inherited disorder." | ( Chou, PI; Hung, YJ; Jeng, C; Pei, D; Wu, DA, 2001) |
"Setleis syndrome is characterised by a leonine appearance." | ( Kusumoto, K; Ogawa, Y; Suzuki, K; Tanabe, A, 2001) |
"Susac's syndrome is a rare disorder characterized by the triad of microangiopathy of the brain and retina with hearing loss." | ( Hashimoto, Y; Tashima, K; Uchino, M; Uyama, E; Yonehara, T, 2001) |
"Cyclic vomiting syndrome is a disorder characterized by recurrent episodes of nausea and vomiting with complete resolution of symptoms between attacks." | ( Cardi, E; Cavaliere, M; Corrado, G; Frediani, T; Lucarelli, S; Pacchiarotti, C; Porcelli, M; Zicari, A, 2001) |
"Lemierre's syndrome is a rare etiology of lung abscess." | ( Jais, X; Lemiale, V; Mayaud, C; Parrot, A; Saidi, F; Vincent, B, 2001) |
"Postpneumonectomy syndrome is a rare complication of pneumonectomy and is characterized by progressive dyspnea, stridor, and repeated chest infections." | ( Birdi, I; Bughai, M; Wells, FC, 2001) |
"The Olmsted syndrome is a rare congenital disorder with palmoplantar keratoderma and hyperkeratotic periorifical plaques." | ( Koch, P; Reinhold, U; Tilgen, W, 2001) |
"Olmsted syndrome is an uncommon inherited disorder of keratinization that presents mutilating palmoplantar keratoderma, perioral hyperkeratosis, leukokeratosis and alopecia." | ( Almagro, M; Contreras, F; Cuevas, J; Del Pozo, J; Fonseca, E; Peña, C; Yebra, MT, 2001) |
"Fryns syndrome is a rare human genetic syndrome that is an autosomal recessive disorder characterized by lung hypoplasia, diaphragmatic hernia, craniofacial malformations, skeletal malformations, cardiovascular malformations, and genitourinary malformations." | ( Acosta, JM; Anderson, KD; Bringas, P; Chai, Y; Meara, JG; Warburton, D, 2001) |
"Pendred syndrome is an autosomal recessive disorder characterized by profound deafness in childhood and goiter." | ( Abe, S; Hoshino, T; Isoda, H; Iwasaki, S; Usami , S; Watanabe, T, 2001) |
"DRESS syndrome is an idiosyncratic reaction characterised by febrile eruption, occurring 2 to 6 weeks after the beginning of the treatment, accompanied by systemic symptoms and biological abnormalities (hypereosinophilia, hepatitis)." | ( Catteau, B; Delcey, V; Devulder, B; Fauchais, AL; Hachulla, E; Hatron, PY; Launay, D; Legout, L; Michon-Pasturel, U; Queyrel, V, 2001) |
"Hyperperfusion syndrome is a rare but potentially devastating complication after carotid endarterectomy (CEA)." | ( Fujita, S; Hosoda, K; Kamei, M; Kawaguchi, T; Kidoguchi, K; Koyama, J; Shibata, Y; Tamaki, N, 2001) |
"Seven cases of ICE syndrome are reported, affecting 6 women and 1 man, with a mean age of 40 years." | ( D'hermies, F; Halhal, M; Morel, X; Renard, G, 2001) |
"Leser-Trélat-syndrome is characterized as the eruptive appearance of multiple seborrheic keratoses in association with underlying malignant disease." | ( Barth, G; Basten, O; Rompel, R; Rüschoff, J, 2001) |
"Hoigne's syndrome is currently considered a pseudoanaphylactic or pseudoallergic reaction following intramuscular and aqueous procaine penicillin administration." | ( Krieg, JC; Schreiber, W, 2001) |
"Liddle's syndrome is a rare form of autosomal-dominant salt-sensitive hypertension." | ( Kitamura, K; Kyuma, M; Sasaki, S; Shimamoto, K; Takeuchi, H; Takizawa, H; Tomita, K; Torii, T; Ura, N, 2001) |
"If this syndrome is suspected, early treatment with high dose steroids should be initiated." | ( Cisneros De La Fuente, E; De La Serna, J; Martín Del Pozo, M; Martín, ML; Solano, F, 2001) |
"This complex syndrome is associated with cyclosporine A therapy or a variety of other conditions in which blood pressure rises acutely." | ( Koo, J; Kwon, S; Lee, S, 2001) |
"Holt-Oram syndrome is caused by mutations in TBX5, a member of the T-box gene family." | ( Bonser, AJ; Brook, JD; Cross, SJ; Ghosh, TK; Packham, EA; Robinson, TE, 2001) |
"Propofol infusion syndrome is a rare but frequently fatal complication in critically ill children given long-term propofol infusions." | ( Segar, P; Shield, J; Stone, J; Weir, P; Wolf, A, 2001) |
"Pai syndrome is a rare congenital disorder first described in 1987." | ( Al-Kharfi, T; Al-Mazrou, KA; Al-Rekabi, A; Al-Serhani, AM; Alorainy, IA, 2001) |
"Lance-Adams syndrome is usually recognized only in a late phase, preventing the early rehabilitation." | ( Halász, P; Holló, A; Janszky, J, 2001) |
"Usher's syndrome is a genetic disorder that causes congenital sensorineural hearing loss, visual impairment due to progressive pigmentary retinopathy, and, often, vestibular dysfunction." | ( Medalia, A; Waldeck, T; Wyszynski, B, 2001) |
"Mucus fishing syndrome is challenging to resolve with conventional treatment because it requires a certain level of psychological tolerance and perseverance from the patient." | ( Brough, GH; Slagle, AM; Slagle, WS, 2001) |
"Pendred syndrome is often associated with inner ear malformations, especially enlarged vestibular aqueduct (EVA)." | ( Furuhashi, A; Miura, Y; Mori, N; Murakami, H; Naganawa, S; Nakashima, T; Nakayama, A; Sato, E; Tadokoro, M, 2001) |
"The toxic oil syndrome is an exogenously-induced autoimmune disease in humans, which is believed to be due to the accidental ingestion of oleic acid anilides." | ( Bell, SA; Caputo, A; Chatelain, R; Kuntze, I, 2002) |
"Hughes-Stovin syndrome is characterized by pulmonary artery aneurysms and peripheral deep venous thromboses." | ( Alí-Munive, A; Maldonado, D; Torres-Duque, C; Varón, H, 2001) |
"Acquired Brown's syndrome is a disorder of ocular mobility characterized by the inability to elevate the affected eye in full adduction owing to inflammatory tenosynovitis of the superior oblique tendon." | ( Faust, AO; Gillenwater, JM; Saulsbury, FT, 2001) |
"Post-pneumonectomy syndrome is an unusual condition, that can occur a variable period of time after a patient has had a pneumonectomy." | ( Harney, MS; Lacy, PD; O'Neill, S; Walsh, M, 2001) |
"Evans syndrome is a rare disorder characterized by combined autoimmune thrombocytopenia (ITP) and autoimmune hemolytic anemia (AIHA)." | ( Burt, RK; Miranda, M; Oyama, Y; Papadopoulos, EB; Traynor, AE, 2001) |
"Galloway-Mowat syndrome is an autosomal recessive disorder characterized by early onset nephrotic syndrome and central nervous system anomalies." | ( Alon, US; Dasouki, MJ; Garola, RE; Hamed, R; Ruotsalainen, V; Srivastava, T; Tryggvason, K; Whiting, JM, 2001) |
"The syndrome is characterized by short stature, coarse face, corneal opacities, generalized osteolysis and progressive painful arthropathy with joint stiffness and contractures of distal phalanges in combination with skin changes." | ( Helin, P; Jacobsen, GK; Matthiesen, G; Nielsen, NS; Pedersen, VF, 2001) |
"Axenfeld-Rieger syndrome is a genetically heterogeneous, autosomal dominant disorder that is characterized by anterior segment defects, glaucoma, and extraocular anomalies." | ( Alward, WL; Betinjane, AJ; Borges, AS; Carani, JC; Nishimura, DY; Sheffield, VC; Stone, EM; Susanna, R, 2002) |
"Brugada syndrome is a form of idiopathic ventricular fibrillation characterized by a right bundle-branch block pattern and ST elevation (STE) in the right precordial leads of the ECG." | ( Angelilli, A; Barmada, MM; Cavlovich, D; Kornblit, CA; London, B; McNamara, DM; Nguyen, T; Seibel, JS; Villanueva, F; Weiss, R, 2002) |
"Refeeding syndrome is well recognized in certain undernourished groups of patients, but may not be so well known to physicians looking after elderly patients, whose nutritional status may be more deficient than is originally apparent." | ( Mallet, M, 2002) |
"Diogenes syndrome is characterised by self-neglect and domestic squalor which leads to unhealthy living conditions." | ( Beauchet, O; Blanc, P; Cadet, L; Girtanner, C; Gonthier, R; Imler, D; Ramboa, P, 2002) |
"Gastric dilatation syndrome is associated with chronic nephropathy, hypergastrinemia, and gastritis in surveillance mice exposed to high levels of environmental antigens." | ( Erdman, S; Fox, JG; García, A; Murphy, JC; Sheppard, BJ, 2001) |
"The syndrome is caused by mutations in the PDS (SLC26A4) gene, encoding an anion transporter pendrin, which localizes to the apical membrane of thyroid follicular cells." | ( Metcalfe, RA; Taylor, JP; Trembath, RC; Watson, PF; Weetman, AP, 2002) |
"Cogan's syndrome is a rare autoimmune disease with systemic involvement." | ( Escobar, JJ; Martínez, P; Menéndez, LM; Sanz, JJ, 2002) |
"Gitelman's syndrome is an autosomal recessive renal tubular disorder characterized by hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria." | ( Bindels, RJ; De Jong, JC; Knoers, NV; Van Den Heuvel, LP; Van Der Vliet, WA; Willems, PH, 2002) |
"Scott syndrome is an orphan inherited hemorrhagic disorder due to a lack of exposure of procoagulant phosphatidylserine at the exoplasmic leaflet of plasma membrane of blood cells." | ( Caron, M; Imam-Sghiouar, N; Joubert-Caron, R; Labas, V; Laude-Lemaire, I; Le Caër, JP; Nabias, DK; Pflieger, D, 2002) |
"Gitelman's syndrome is manifested by hypokalemic alkalosis, hypomagnesemia, hypocalciuria, normotensive hyperreninemia and hyperaldosteronism." | ( Farfel, Z; Gurevitz, O; Mayan, H, 2002) |
"Gitelman's syndrome is a variant of Bartter's syndrome characterized by hypocalciuria and hypomagnesemia." | ( Choi, KC; Kim, NH; Kim, SW; Ko, JH; Ma, SK; Nah, MY; Yeum, CH, 2002) |
"Susac's syndrome is an extremely rare clinical manifestation characterized by the triad of fluctuating sensorineural hearing loss, sudden visual loss and encephalopathy." | ( Albaladejo Devis, I; Cubillana Herrero, JD; Jiménez Cervantes-Nicolás, JA; Minguez Merlos, N; Rodríguez González-Herrero, B; Soler Valcárcel, A, 2002) |
"The syndrome is mainly characterized by hematocrit elevation, decline in blood oxygen saturation, accumulation of fluid in the abdominal cavity, and finally, death." | ( Luger, D; Shinder, D; Yahav, S, 2002) |
"KID syndrome is rare." | ( Handa, S; Kaur, I; Kumar, B; Radotra, BD; Sahoo, B, 2002) |
"The syndrome is usually manifested during the middle part of the yolk-sac fry stage and has been shown to be associated with a thiamine (vitamin B(1)) deficiency." | ( Akerman, G; Amcoff, P; Balk, L; Börjeson, H; Norrgren, L; Tjärnlund, U, 2002) |
"The outcome of this syndrome is good in 50% of cases; in 25% the symptomatology worsens and in the remaining 25% it remains stable." | ( Faraj, Z; Khattabi, A; Soulaymani, R, 2002) |
"Small left colon syndrome is a very rare cause of neonatal bowel obstruction." | ( Amrani, A; Benhammou, M; Ettayebi, F; Hachimi, MH; Zerhouni, H, 2002) |
"The syndrome is acute, usually follows minor trauma to the hand, and is associated with a progressive synergistic form of gangrene." | ( Abbas, ZG; Archibald, LK; Gill, GV, 2002) |
"Mesenteric traction syndrome is described as sudden tachycardia, hypotension and flush." | ( Celik, I; Duda, D; Lorenz, W, 2002) |
"Infantile tremor syndrome is characterized by coarse tremors, mental and physical retardation, light colored brown hair, skin pigmentation and anemia." | ( Bartakke, SP; Kamat, JR; Tullu, MS; Vora, RM, 2002) |
"Hadju-Cheney syndrome is characterized by short stature, distinctive facies, and a slowly progressive skeletal dysplasia including acro-osteolysis." | ( Drake, WM; Hiorns, MP; Kendler, DL, 2003) |
"Low-T3 syndrome is a strong predictor of death in cardiac patients and might be directly implicated in the poor prognosis of cardiac patients." | ( Donato, L; Iervasi, G; L'Abbate, A; Landi, P; Pingitore, A; Raciti, M; Ripoli, A; Scarlattini, M, 2003) |
"Cobb syndrome is a rare clinical entity characterized by the combination of a vascular skin nevus and an angioma in the spinal canal at the same metamere." | ( Iihara, K; Nagata, I; Sakai, N; Soeda, A, 2003) |
"ATRA syndrome is a life-threatening complication of ATRA treatment whose prophylaxis remains somewhat controversial." | ( Caillot, D; Chevret, S; Chomienne, C; Coiteux, V; Conde, E; Cony Makhoul, D; de Botton, S; de la Serna, J; Degos, L; Dombret, H; Fenaux, P; Fey, M; Gardembas, M; Gardin, C; Guerci, A; Lefrere, F; Reman, O; San Miguel, J; Sanz, M; Stamatoulas, A; Vekhoff, A, 2003) |
"Pendred syndrome is an autosomal recessive inherited disorder characterized by profound hearing impairment and inappropriate iodine release by the thyroid on perchlorate challenge." | ( Britton, KE; Coffey, RA; Cohen, M; Jan, H; Luxon, LM; Phelps, PD; Reardon, W; Trembath, RC, 2003) |
"Weill-Marchesani syndrome is characterized by short stature, brachydactylyl, myopia, microspherophakia, lens dislocation, glaucoma, joint stiffness, restricted articular movements and facial features." | ( Aypar, U; Dal, D; Sahin, A, 2003) |
"Scott syndrome is a bleeding disorder, characterized by impaired surface exposure of procoagulant phosphatidylserine (PS) on platelets and other blood cells, following activation with Ca(2+)-elevating agents." | ( Bevers, EM; Collins, PW; Comfurius, P; Feijge, MA; Giddings, JC; Harmsma, M; Heemskerk, JW; Munnix, IC, 2003) |
"The Muckle-Wells syndrome is a rare autosomal dominant disorder belonging to the group of hereditary fever syndromes." | ( Berbis, P; Cuisset, L; Delpech, M; Disdier, P; Dodé, C; Ene, N; Granel, B; Grateau, G; Philip, N; Serratrice, J; Weiller, PJ, 2003) |
"TINU syndrome is an under-recognized disorder and may account for some cases of uveitis otherwise characterized as 'idiopathic." | ( Austin, JK; Johnson, BS; Pizio, HF, 2003) |
"Satoyoshi syndrome is a very rare disorder, characterized by progressive painful intermittent muscle spasms beginning in adolescence." | ( Matsumura, T; Shinno, S; Yokoe, M, 2002) |
"Purple toes syndrome is an extremely uncommon, nonhemorrhagic, cutaneous complication associated with warfarin therapy." | ( Spyropoulos, AC; Talmadge, DB, 2003) |
"Liddle's syndrome is a monogenic form of hypertension caused by mutations in the PY motif of the COOH terminus of beta- and gamma-epithelial Na+ channel (ENaC) subunits." | ( Auberson, M; Hoffmann-Pochon, N; Kellenberger, S; Schild, L; Vandewalle, A, 2003) |
"Gitelman's syndrome is an important differential diagnosis in the evaluation of the normotensive patient with hypokalemia." | ( Grabensee, B; Heering, P; Kurschat, C, 2003) |
"Lemierre's syndrome is a rare but potentially life-threatening entity that follows an oropharyngeal infection." | ( Jauch, EC; Johnson, MC; Ma, M, 2003) |
"Triple A syndrome is characterized by achalasia of the cardia, alacrima, adrenocorticotrophic hormone (ACTH) resistant adrenal insufficiency and progressive neurological abnormalities including autonomic nervous dysfunction." | ( Juvekar, M; Kelkar, A; Shanbag, P; Vaidya, M, 2003) |
"Primary Bartter syndrome is associated with endogenous increased levels of prostaglandins." | ( Allegaert, K; Devlieger, H; Gewillig, M; Proesmans, W; Vanhaesebrouck, S; Vanhole, C, 2003) |
"Propofol infusion syndrome is multifactorial, and propofol, particularly when combined with catecholamines and/or steroids, acts as a triggering factor." | ( Candiani, A; Latronico, N; Rasulo, F; Vasile, B, 2003) |
"Dapsone syndrome is a manifestation of the DRESS (drug rash with eosinophilia and systemic symptoms) syndrome which is a serious condition that has been reported in association with various drugs." | ( Choudhuri, G; Dhingra, S; Itha, S; Kumar, A, 2003) |
"The syndrome is characterised by the presence of autoantibodies directed against aminoacyl-tRNA synthetases." | ( Hengstman, GJ; van den Hoogen, FH; van Engelen, BG; van Venrooij, WJ, 2003) |
"Hyperperfusion syndrome is a rare but potentially devastating complication that can occur after carotid endarterectomy (CEA)." | ( Endo, H; Inoue, T; Konno, H; Ogasawara, K; Ogawa, A; Yukawa, H, 2003) |
"The short QT syndrome is characterized by familial sudden death, short refractory periods, and inducible ventricular fibrillation." | ( Bianchi, F; Borggrefe, M; Gaita, F; Giustetto, C; Grossi, S; Riccardi, R; Richiardi, E; Schimpf, R; Wolpert, C, 2003) |
"This syndrome is manifested by unexplained fever, weight gain, respiratory distress, interstitial pulmonary infiltrates, pleural and pericardial effusion, episodic hypotension, and acute renal failure." | ( Larson, RS; Tallman, MS, 2003) |
"The Liddle syndrome is a dominant form of salt-sensitive hypertension resulting from mutations in the beta or gamma subunit of ENaC." | ( Bens, M; Gautschi, I; Hummler, E; Loffing, J; Pradervand, S; Rossier, BC; Schild, L; Vandewalle, A, 2003) |
"49,XXXXY syndrome is a rare sex chromosome aneuploidy syndrome characterized by mental retardation, severe speech impairment, craniofacial abnormalities, multiple skeletal defects, and genital abnormalities." | ( Arpino, C; Curatolo, P; Fabbri, F; Galasso, C, 2003) |
"Discontinuation syndrome is associated with a rostral anterior cingulate Cho/Cre metabolite ratio decrease that may reflect dynamics of rostral anterior cingulate function." | ( Cohen, BM; Frederick, Bd; Hennen, J; Henry, ME; Kaufman, MJ; Renshaw, PF; Schmidt, ME; Stoddard, EP; Villafuerte, RA, 2003) |
"Thus, Trousseau syndrome is likely triggered by interactions of circulating carcinoma mucins with leukocyte L-selectin and platelet P-selectin without requiring accompanying thrombin generation." | ( Borsig, L; Le, D; Varki, A; Varki, N; Wahrenbrock, M, 2003) |
"The meconium-plug syndrome is unrelated to cystic fibrosis and meconium ileus." | ( GILLIS, DA; GRANTMYRE, EB, 1965) |
"Kaposi-Juliusberg's syndrome is a severe herpes simplex virus cutaneous infection, accompanied by general signs." | ( Burnouf, M; Crickx, B; Descamps, V; Féton, N; Lebrun-Vignes, B; Mahé, E, 2003) |
"Kaposi-Juliusberg's syndrome is a "classical" herpes complication of atopic dermatitis." | ( Burnouf, M; Crickx, B; Descamps, V; Féton, N; Lebrun-Vignes, B; Mahé, E, 2003) |
"The SUNCT syndrome is characterized by a short-lasting headache in the first division of the trigeminal nerve, associated with ipsilateral autonomic symptoms." | ( Kowacs, PA; Piovesan, EJ; Siow, C; Werneck, LC, 2003) |
"Zimmermann-Laband syndrome is a rare autosomal dominant disorder that is characterized by gingival fibromatosis, ear, nose, bone, and nail defects, and hepatosplenomegaly." | ( Corrêa, Fde O; Gonçalves, D; Holzhausen, M; Orrico, SR; Rodrigues, VC; Spolidorio, LC, 2003) |
"Sotos syndrome is a rare condition characterized by typical facies, early accelerated growth, large body size, developmental delay and congenital heart defects." | ( Adhami, EJ; Cancio-Babu, CV, 2003) |
"Rogers syndrome is an autosomal recessive disorder resulting in megaloblastic anemia, diabetes mellitus, and sensorineural deafness." | ( Aronheim, A; Assaraf, YG; Baron, D; Drori, S, 2003) |
"Brugada syndrome is a clinical and electrocardiographic entity characterized by ST segment elevation in the right precordial ECG leads and sudden death or syncope secondary to malignant ventricular arrhythmia, and has a high recurrence rate." | ( Merino, JL; Peinado, A; Peinado, R; Sánchez-Aquino, RM; Sobrino, JA, 2003) |
"Rieger syndrome is one of the most serious causes of tooth agenesis." | ( Feng, H; Wang, Y; Zhang, X; Zhao, H, 2003) |
"Dorfman-Chanarin syndrome is a rare autosomal recessive inherited lipid storage disease characterized by ichthyosis, leukocyte lipid vacuoles, and involvement of several internal organs." | ( Akiyama, M; Nomura, Y; Sawamura, D; Shimizu, H; Sugawara, M, 2003) |
"Fertile eunuch syndrome is caused by isolated LH deficiency, but its pathophysiology still remains controversial." | ( Naito, K; Shiraishi, K, 2003) |
"The ICE syndrome is a progressive anterior segment disease that is quite difficult to manage." | ( Dunbar, MT; Morris, RW, 2004) |
"Muenke syndrome is a genetically determined craniosynostosis that involves one or both coronal sutures." | ( Caldarelli, M; Di Rocco, C; Di Rocco, F; Sabatino, G; Tamburrini, G; Zampino, G, 2004) |
"Brugada syndrome is characterized by right bundle branch block morphology and ST-segment elevation in the right precordial leads and a propensity to develop ventricular arrhythmias." | ( Kanmatsuse, K; Kofune, T; Masaki, R; Okubo, K; Okumura, Y; Oshikawa, N; Ozawa, Y; Saito, S; Sugimura, H; Takagi, Y; Wakita, R; Watanabe, I; Yamada, T, 2004) |
"Rieger syndrome is a rare, autosomal dominant disorder due to developmental arrest of tissues derived from neural crest ectoderm in the third trimester." | ( Lehl, G; Pannu, K; Singh, J, 2003) |
"Seckel syndrome is a very rare syndrome, with only 60 reported cases in the medical literature." | ( Hussain, A; Murthy, J; Rajamani, A; Ramanan, PV; Seshadri, KG, 2004) |
"Culture-bound syndrome is a term used to describe the uniqueness of some syndromes in specific cultures." | ( Bhugra, D; Siribaddana, SH; Sumathipala, A, 2004) |
"Gitelman's syndrome is an autosomal recessive disorder characterized by sodium wasting and hypotension." | ( Ishikawa, K; Katsuya, T; Matsuo, A; Ogihara, T; Rakugi, H; Shoji, M; Yasujima, M, 2004) |
"Aicardi-Goutières syndrome is a rare progressive encephalopathy characterized by acquired microcephaly, basal ganglia calcification, and chronic CSF lymphocytosis, raised levels of interferon alpha in CSF and plasma and chill-blain type lesions." | ( Battini, R; Bianchi, MC; Cheong, J; Cioni, G; Cowan, FM; Cox, IJ; Robertson, NJ; Stafler, P; Tosetti, M, 2004) |
"This syndrome is relatively uncommon and accompanies dyspnea and hypoxemia on changing to a sitting or standing from recumbent position." | ( Kawamoto, K; Terasaki, H; Yoshitake, A, 2004) |
"Brugada syndrome is characterized by sudden death secondary to malignant arrhythmias and the presence of ST segment elevation in leads V(1) to V(3) of patients with structurally normal hearts." | ( Antzelevitch, C; Berruezo-Sanchez, A; Brugada, J; Brugada, P; Brugada, R; Dumaine, R; Hong, K; Oliva, A; Piñero-Galvez, C; Poungvarin, N; Towbin, JA; Vatta, M, 2004) |
"Plateau iris syndrome is considered to be a rare entity and has been classified into two subtypes, the complete and the incomplete forms." | ( Kunjam, V; Onam, KS; Sekhar, GC, 2004) |
"Popliteal pterygium syndrome is a well defined complex that consists of popliteal pterygium, intercrural pterygium, various digital anomalies that include hypoplasia or agenesis of digits, syndactyly, valgus or varus deformities of the feet and oral anomalies such as cleft lip-palate." | ( Ravi, KV; Sasidharan, CK, 2004) |
"Lennox-Gastaut syndrome is an epileptic encephalopathy characterized by multiple seizure types, mental retardation, and a slow spike-and-wave pattern on electroencephalography." | ( De Los Reyes, EC; Hale, SE; Sharp, GB; Williams, JP, 2004) |
"Short QT syndrome is a recently described genetic disease characterized by short QT interval, high risk of sudden death, atrial fibrillation, and short refractory periods." | ( Antzelevitch, C; Bianchi, F; Borggrefe, M; Brugada, R; Calò, L; Gaita, F; Giustetto, C; Haissaguerre, M; Schimpf, R; Wolpert, C, 2004) |
"Roberts syndrome is an autosomal recessive disorder characterised primarily by symmetric reduction of all limbs and growth retardation." | ( Ascoli, C; Mariani, T; Montagna, C; Musio, A; Ried, T; Vezzoni, P; Zambroni, D, 2004) |
"Rieger syndrome is a dysembryogenetic disease in which labyrinthic damage can be associated with other genetic anomalies." | ( Megighian, D; Poli, P; Savastano, M, 2003) |
"The syndrome is strongly associated with limb deep vein thrombosis and is potentially life-threatening if unrecognized." | ( Chao, TY; Dai, MS; Hsieh, AT, 2004) |
"This syndrome is caused by IgG-insulin-complexes with prolonged plasma half-life in the presence of reduced insulin action." | ( Reincke, M; Reisch, N; Zwermann, O, 2004) |
"This syndrome is usually caused by endogenous dopamine deficiency but in these patients was associated with elevated dopamine metabolites in CSF and an unusual eye movement disorder: ocular flutter together with saccade initiation failure." | ( Assmann, BE; Bräutigam, C; Heales, SJ; Hoffmann, GF; Hyland, K; Robinson, RO; Sharma, R; Surtees, RA; Wevers, RA; Zschocke, J, 2004) |
"Van der Woude syndrome is a rare autosomal dominant condition with high penetrance and variable expression." | ( Cheong, CH; King, NM; Sanares, AM, 2004) |
"Costello syndrome is a rare congenital anomaly syndrome with a predisposition to specific tumors, including neuroblastoma, rhabdomyosarcoma, and transitional cell carcinoma of the bladder." | ( Gripp, KW; Kawame, H; Nicholson, L; Viskochil, DH, 2004) |
"Gitelman's Syndrome is autosomal recessive as is Bartter's Syndrome." | ( Bonilla, B; González Rico, MA; Miguel, A; Pons, S; Puchades, MJ, 2004) |
"Silver syndrome is a rare autosomal dominant neurodegenerative disorder characterized by marked amyotrophy and weakness of small hand muscles and spasticity in the lower limbs." | ( Auer-Grumbach, M; De Jonghe, P; De Vriendt, E; Dierick, I; Irobi, J; Jordanova, A; Merlini, L; Timmerman, V; Van den Bergh, P; Van Gerwen, V; Van Maldergem, L; Verellen, C; Verpoorten, N; Wagner, K; Windpassinger, C, 2004) |
"Bartter's syndrome is a disorder that has been linked to mutations in one of three ion transporter proteins: NKCC2 (type I), ROMK (type II) and CCLNKB (type III), which affects a final common pathway that participates in ion transport by thick ascending limb cells." | ( Amaral, TN; Gontijo, JA; Menegon, LF, 2004) |
"Barth syndrome is a genetic disorder that is caused by different mutations in the TAZ gene G4." | ( Greenberg, ML; Gu, Z; Ma, L; Vaz, FM; Wanders, RJ, 2004) |
"CSW syndrome is far less well-known than SIADH and also different from SIADH in diagnosis and treatment." | ( Byeon, JH; Huh, EJ; Lee, SJ, 2004) |
"The Van der Woude syndrome is a rare autosomal dominant developmental malformation usually associated with bilateral lower lip pits." | ( Dissemond, J; Franckson, T; Haberer, D; Hillen, U, 2004) |
"This syndrome is rarely encountered in the elderly." | ( Abut, E; Akkaya, L; Arman, A; Bölükbas, C; Güveli, H; Kurdas, OO; Uysal, U, 2004) |
"Propofol infusion syndrome is caused by impaired fatty acid oxidation." | ( Baumeister, FA; Eberhardt, J; Holthausen, H; Kunkel, J; Liebhaber, GM; Oberhoffer, R; Peters, J, 2004) |
"Steinfeld syndrome is an extremely variable autosomal dominant condition that, in severe cases, is characterized by holoprosencephaly, radial limb defects, and renal and/or cardiac defects." | ( Dunn, J; Huff, D; McPherson, E; Muenke, M, 2004) |
"DRESS syndrome is well described in adults treated with aromatic anti-epileptic drugs, such as phenytoin, phenobarbital, and carbamazepine, but also with other drugs." | ( Bosdure, E; Boyer, M; Cano, A; Reynaud, R; Roquelaure, B; Sarles, J; Viard, L, 2004) |
"Johanson-Blizzard syndrome is a rare autosomal recessive disorder characterized by aplasia of the alae nasi, aplasia cutis, dental anomalies, postnatal growth retardation and pancreatic exocrine aplasia." | ( Enoki, M; Fujishima, M; Takada, G; Takahashi, T; Tsuchida, S, 2004) |
"This syndrome is accompanied by fever, rash, lymphadenopathy, eosinophilia and affects parenchymal organs." | ( Papp, Z; Török, L, 2004) |
"Kabuki make-up syndrome is a rare disorder characterized by mental retardation, postnatal dwarfism and peculiar facies." | ( Chandrasekar, VK; Kulkarni, ML; Kulkarni, PM; Shetty, SK, 2004) |
"Hand-foot syndrome is a localized cutaneous side effect associated with the administration of several chemotherapeutic agents, including the oralfluoropyrimidine capecitabine (Xeloda)." | ( Blum, J; Scheithauer, W, 2004) |
"Liddle's syndrome is an autosomal dominant form of salt-sensitive hypertension and has been shown to be caused by missense or frameshift mutations in the amiloride-sensitive epithelial sodium channel (ENaC), which is composed of three subunits: alpha, beta, and gamma." | ( Adachi, M; Furuhashi, M; Hayashi, M; Kitamura, K; Miyoshi, T; Nishitani, T; Sakamoto, K; Satoh, N; Shikano, Y; Shimamoto, K; Shinshi, Y; Tomita, K; Ura, N; Wakida, N, 2005) |
"PHACE Syndrome is a neurocutaneous disease spectrum encompassing the following features: Posterior fossa brain malformations, large facial Hemangiomas, Arterial anomalies, Coarctation of the aorta and cardiac defects, and Eye abnormalities." | ( Balashanmugan, A; Lasky, JB; Sandu, M, 2004) |
"Axenfeld-Rieger Syndrome is a disorder of morphogenesis which is autosomal dominantly inherited." | ( Karri, B; Kaye, SB; Sim, KT, 2004) |
"Stewart-Treves syndrome is an angiosarcoma associated with long-standing lymphoedema, most commonly seen as a rare complication of breast cancer treatment, and is associated with a poor outcome." | ( Clark, MA; Roy, P; Thomas, JM, 2004) |
"The syndrome is prevalent in elderly men, completely remitted with a small dose of steroid over a relatively short period, and has a benign clinical course." | ( Aoyama, K; Ishimura, H; Iwagaki, T; Kadoya, T; Takenaka, I; Terada, T, 2004) |
"ARC syndrome is a rare disorder consisting of arthrogryposis, renal tubular acidosis and cholestatic liver disease." | ( Hayes, JA; Kahr, WH; Lo, B; Macpherson, BA, 2004) |
"Liddle's syndrome is a genetic form of hypertension linked to Na(+) retention caused by activating mutations in the COOH terminus of the beta or gamma subunit of the epithelial sodium channel (ENaC)." | ( Bens, M; Boulkroun, S; Chang, CT; Hummler, E; Rossier, BC; Schild, L; Teulon, J; Vandewalle, A, 2005) |
"The Brugada syndrome is an arrhythmogenic disease caused in part by mutations in the cardiac sodium channel gene, SCN5A." | ( Antzelevitch, C; Berruezo-Sanchez, A; Brugada, J; Brugada, P; Brugada, R; Burashnikov, E; Dumaine, R; Guerchicoff, A; Hong, K; Matsuo, K; Nesterenko, V; Oliva, A; Pollevick, GD; Potenza, D; Towbin, JA, 2004) |
"This syndrome is caused by dominantly expressed mutations of the glutamate dehydrogenase gene (10q23." | ( Argente Oliver, J; Donoso, MA; Martos Moreno, G; Montero Luis, C; Muñoz Calvo, MT; Pozo Román, J; Rubio Cabezas, O, 2004) |
"Meconium aspiration syndrome is a serious condition of the newborn characterized by pulmonary inflammation with substantial neutrophil infiltration." | ( Castellheim, A; Fung, M; Mollnes, TE; Pharo, A; Saugstad, OD, 2005) |
"PBC-AIH overlap syndrome is mostly found in middle-aged women." | ( Lu, HY; Wang, GQ; Wu, CH; Xu, XY; Yu, YY, 2004) |
"Costello syndrome is a distinctive multiple congenital anomaly syndrome, characterized by loose soft skin with deep palmar and plantar creases, loose joints, distinctive coarse facial features, skeletal abnormalities, cardiac abnormalities (cardiovascular malformation (CVM), hypertrophic cardiomyopathy, tachycardia), predisposition to malignancy, developmental delays, and mental retardation." | ( Allen, W; Gripp, KW; Hamilton, R; Hinek, A; Klüppel, M; Lin, AE; Schoyer, L; Teitell, MA; Weksberg, R, 2005) |
"Susac's syndrome is a rare disease of unknown aetiology affecting the small vessels of the retina, brain, and cochlea." | ( Basilli, S; Donnan, GA; Plummer, C; Rattray, K, 2005) |
"May-Thurner syndrome is caused by compression of the left common iliac vein by the overlying right iliac artery, resulting in impeded venous blood flow from the left lower extremity." | ( Boyd, DA, 2004) |
"Allgrove syndrome is a genetic disorder inherited in an autosomal recessive pattern and characterized by a triad of adrenal insufficiency, achalasia, and alacrima." | ( Houlden, H; Poretsky, L; Salehi, M; Sheikh, A, 2005) |
"Blau syndrome is an autosomal dominant inherited disease and is known to be caused by mutations in the CARD15 gene (also called NOD2)." | ( Coffman, JE; Davey, MP; Doyle, TM; Martin, TM; McIlvain-Simpson, G; Rosé, CD; Rosenbaum, JT, 2005) |
"Cotard's syndrome is another rare condition in which the patient has nihilistic delusions and ideation of immortality." | ( Nejad, AG; Toofani, K, 2005) |
"Laugier-Hunziker syndrome is a rare, acquired, benign hyperpigmentation of the lips, oral mucosa and nails." | ( Akcali, C; Atik, E; Serarslan, G, 2004) |
"Lemierre syndrome is a disease that presents with oropharyngeal infection, sepsis, internal jugular vein thrombosis, and septic emboli with the Gram-negative organism Fusobacterium necrophorum cultured as the etiologic agent." | ( Nadkarni, MD; O'Neill, JC; Verchick, J, 2005) |
"Pulmonary renal syndrome is a rare event in childhood and coexistence of the two types of antibodies is exceptional." | ( Camblor, CF; García, ML; Hijosa, MM; Román, LE; Salcedo, DP; Torres, MN, 2005) |
"Cogan's syndrome is defined by the combination of non syphilitic interstitial keratitis and inner ear dysfunction, similar to Meniere's disease." | ( Bursztejn, AC; Christmann, D; Hansmann, Y; Lesens, O; Methlin, T; Perrin, AE; Veillon, F, 2005) |
"Susac's syndrome is a rare disease characterized by encephalopathy, retinal artery occlusion, and a sensorineural hearing loss." | ( Harrèus, U; Hilgert, E; Kramer, MF; Matthias, C, 2006) |
"Anarchic hand syndrome is characterised by unintended but purposeful and autonomous movements of the upper limb and intermanual conflict." | ( Breen, N; Kritikos, A; Mattingley, JB, 2005) |
"Diencephalic syndrome is a rare but potentially lethal cause of failure to thrive in infants and young children." | ( Brue, C; Cohen, LE; Fleischman, A; Goumnerova, L; Kieran, M; Pomeroy, SL; Poussaint, TY; Scott, RM, 2005) |
"Dapsone syndrome is a rare hypersensitivity reaction to dapsone and is characterized by high fever, papular or exfoliative dermatitis, progressing to liver toxicity and generalized lymphadenopathy, resembling a mononucleosis infection." | ( Alves-Rodrigues, EN; Fontes, CJ; Ribeiro, LC; Silva, MD; Takiuchi, A, 2005) |
"The Gardner-Diamond syndrome is a disorder characterized by recurrent spontaneous painful bruising in patients with underlying psychosis and neurosis." | ( Fete, T; Puetz, J, 2005) |
"Gordon's syndrome is a rare condition characterized by hypertension and hyperkalemia despite normal renal glomerular function." | ( Gordon, RD; Hellier, C; Power, GE, 2004) |
"Dropped head syndrome is characterized by severe weakness of neck extensor muscles with sparing of the flexors." | ( Benedetti, S; Bertini, E; Bonne, G; D'Amico, A; Ferreiro, A; Guicheney, P; Haliloglu, G; Maugenre, S; Menditto, I; Richard, P; Talim, B; Topaloglu, H, 2005) |
"Median cleft facial syndrome is a rare pathology; however, dentists should know its possible alterations at an oral level, because children with this syndrome need dental treatment to achieve good esthetics and correct occlusion." | ( Bravo Gonzalez, LA; Haro Montero, MM; Romero Maroto, M; Sanchez del Pozo, J, 2005) |
"Salt wasting syndrome is caused by a congenital or acquired synthesis disorder or by the aldosterone function disorder." | ( Basiak, A; Noczyńska, A; Wikiera, B, 2005) |
"This syndrome is characterized by a frightening constellation of symptoms in which the child exhibits some combination of apnea, change in color, change in muscle tone, coughing, or gagging." | ( Hall, KL; Zalman, B, 2005) |
"The syndrome is apparently induced by exposure to mid-frequency sonar signals and particularly affects deep, long-duration, repetitive-diving species like BWs." | ( Arbelo, M; Castro, P; Edwards, JF; Espinosa de los Monteros, A; Fernández, A; Herráez, P; Jaber, JR; Martín, V; Rodríguez, F, 2005) |
"Gitelman's syndrome is characterised by persistent hypokalaemia, hypomagnesaemia and hypocalciuria (OMIM 263800)." | ( Bindels, RJ; Cornelissen, EA; Hoefsloot, LH; Knoers, NV, 2005) |
"Brugada syndrome is a channelopathy associated with right bundle branch block and ST segment elevation in the right precordial leads." | ( Altunkeser, B; Atar, I; Ertan, C; Müderrisoğlu, H; Ozin, B; Yildirir, A, 2005) |
"The ocular ischemic syndrome is caused by severely reduced ocular perfusion, usually secondary to carotid artery stenosis." | ( Larsen, M; Munch, IC, 2005) |
"Vasoplegic syndrome is a recognized complication following cardiac surgery using cardiopulmonary bypass and is associated with increased morbidity and mortality." | ( Shanmugam, G, 2005) |
"Van der Woude syndrome is an autosomal dominant disease characterized by lower lip pits with or without cleft lip and/or cleft palate." | ( Benson, AG; Djalilian, HR; Ziai, MN, 2005) |
"GLUT1 deficiency syndrome is caused by impaired glucose transport into the brain resulting in an epileptic encephalopathy, developmental delay, and a complex motor disorder." | ( Binder, S; Gertsen, E; Hertzberg, C; Klepper, J; Leferink, M; Leiendecker, B; Näke, A; Scheffer, H; Voit, T; Willemsen, MA, 2005) |
"Gitelman syndrome is caused by mutations of the SLC12A3 gene, which encodes the thiazide-sensitive NaCl transporter NCCT." | ( Izquierdo, MJ; Riancho, JA; Sañudo, C; Saro, G; Zarrabeitia, MT, 2006) |
"Tn syndrome is a rare autoimmune disease in which subpopulations of blood cells in all lineages carry an incompletely glycosylated membrane glycoprotein, known as the Tn antigen." | ( Cummings, RD; Ju, T, 2005) |
"Infantile Tremor Syndrome is a distinct clinical entity most commonly seen in Indian Subcontinent." | ( Hakeem, MA; Patil, MM; Ratageri, VH; Shepur, TA, 2005) |
"Costello syndrome is characterized by mental retardation, loose skin, coarse facies, skeletal abnormalities, cardiovascular abnormalities (congenital heart defects, cardiomyopathy, rhythm disturbances), and predisposition to neoplasia." | ( Al-Sharkawi, I; Alexander, S; Alkhayyat, H; Backer, KC; El-Sabban, F; Hussain, K; Ramadan, D, 2005) |
"Brugada syndrome is characterized by the presence of right bundle branch block on electrocardiography and by ST-segment elevation in the right precordial leads (V1-V3), by the absence of structural cardiac abnormalities, and by episodes of syncope or sudden death." | ( Daga, B; de la Puerta, I; Ferreira, I; Miñano, A; Pelegrín, J; Rodrigo, G, 2005) |
"Rabbit syndrome is characterized by rapid, fine, rhythmic movements of the perioral muscles along a vertical axis, mimicking the chewing actions of a rabbit." | ( Altindag, A; Yanik, M, 2005) |
"Gitelman's syndrome is a recessively inherited renal tubular disorder characterized by low plasma potassium and magnesium levels, reduced calcium excretion, metabolic alkalosis, and increased plasma renin activity and plasma aldosterone concentration with normal blood pressure levels." | ( Kageyama, K; Matsuda, E; Moriyama, T; Nigawara, T; Sakihara, S; Shoji, M; Suda, T; Terui, K; Tsutaya, S; Yasujima, M, 2005) |
"Diabetes in this syndrome is due to an insulin insufficiency that initially responds to thiamine supplements; however, most patients become fully insulin dependent after puberty." | ( Ariyawansa, I; Barrett, TG; Lo, IF; Minton, JA; Ricketts, CJ; Samuel, J; Wales, JK, 2006) |
"Aniridic fibrosis syndrome is characterized by the development of a progressive anterior chamber fibrosis." | ( Chan, CC; Derby, EA; Freeman, JM; Holland, EJ; Petersen, MR; Schwartz, GS; Tsai, JH, 2005) |
"Propofol infusion syndrome is described in the pediatric literature as metabolic acidosis, rhabdomyolysis, and bradycardia that results in death." | ( Abou-Khaled, KJ; Kumar, MA; Schwartzman, RJ; Thomas, CE; Urrutia, VC, 2005) |
"If this syndrome is suspected, hemodialysis should be considered." | ( Abou-Khaled, KJ; Kumar, MA; Schwartzman, RJ; Thomas, CE; Urrutia, VC, 2005) |
"Peeling skin syndrome is an autosomal recessive genodermatosis characterized by the shedding of the outer epidermis." | ( Candi, E; Cassidy, AJ; McLean, WH; Melino, G; Morley, SM; Steijlen, PM; Terrinoni, A; van der Velden, J; van Geel, M; van Steensel, MA, 2005) |
"Post-pneumonectomy syndrome is a rare late complication of pneumonectomy, which is due to extreme mediastinal shift and rotation into the pneumonectomy space." | ( Bayram, AS; Gebitekin, C, 2006) |
"Cyclic-vomiting syndrome is probably a common but often not recognised syndrome." | ( Fontijn, JR; Rövekamp, MH; van der Woerd, WL; van Diemen-Steenvoorde, JA, 2006) |
"Gitelman syndrome is a rare autosomal recessive disorder that presents in early adulthood with fatigue, muscle cramps and electrolyte abnormalities." | ( Elovitz, MA; Srinivas, SK; Sukhan, S, 2006) |
"Löfgren's syndrome is not uncommon in European countries, but is extremely rare in Japan." | ( Izumo, M; Sakai, T; Sekiya, K; Tojima, H, 2005) |
"Triple A syndrome is an autosomal recessive neuroendocrinological disease caused by mutations in a gene that encodes 546 amino acid residues." | ( Asai, H; Furiya, Y; Hirano, M; Ueno, S; Yasui, A, 2006) |
"Gitelman's syndrome is an autosomal recessive inherited renal tubular disorder resulting from loss-of-function mutations in the thiazide-sensitive sodium chloride cotransporter gene (SLC12A3)." | ( Iwai, N; Kokubo, Y; Naraba, H; Tomoike, H, 2005) |
"Edematous syndrome is one of the most frequently occurring manifestations of chronic venous insufficiency (CVI)." | ( Gudymovich, VG; Liadov, KV; Sokolov, AL; Stoĭko, IuM, 2005) |
"Maffucci's syndrome is a rare sporadic congenital disorder associated with multiple enchondromas and soft tissue hemangiomas." | ( Arai, Y; Hasegawa, T; Maeda, T; Miyake, M; Sugimura, K; Tateishi, U, 2005) |
"Hoigné syndrome is a pseudoanaphylactic or pseudoallergic reaction following intramuscular injection of procaine penicillin, with neuropsychiatric problems developing immediately after the injection." | ( Dill-Müller, D, 2006) |
"Dysequilibrium syndrome is associated with severe spatial deficits that I conjecture underlie its balance dysfunction." | ( Skoyles, JR, 2006) |
"This syndrome is also characterized by growth retardation and asymmetry, among other clinical features." | ( Bliek, J; Hamel, B; Kroes, H; Letteboer, T; Maas, S; Mannens, M; Salieb-Beugelaar, G; Simon, M; Terhal, P; van den Bogaard, MJ; van der Smagt, J, 2006) |
"The Sulfone syndrome is not a well-known sequela of dapsone therapy and occurs at various doses, ranging from 50-300 mg/d." | ( Abidi, MH; Ibrahim, RB; Kozlowski, JR; Peres, E, 2006) |
"Alstrom syndrome is a rare autosomal recessive disorder characterized by retinal degeneration, sensorineural hearing loss, obesity, type 2 diabetes mellitus and chronic nephropathy." | ( Aktas, D; Bayrak, G; Ensari, A; Ensari, C; Koç, E; Suher, M, 2006) |
"Coffin-Siris syndrome is a multiple congenital anomaly/mental retardation syndrome with phenotypic variability [OMIM 135900]." | ( Flynn, MA; Milunsky, JM, 2006) |
"Omenn syndrome is a severe combined immunodeficiency with features of generalised erythroderma alopecia and evidence of Th2 inflammation (eosinophilia and raised IgE)." | ( Kemp, A; Knight, P; Rego, S; Wong, M, 2006) |
"Lemierre's syndrome is characterized by acute oropharyngeal infection complicated by internal jugular venous thrombosis secondary to septic thrombophlebitis, and metastatic abscesses." | ( Jones, C; O'Reilly, BJ; Seymour, FK; Siva, TM, 2006) |
"The cardiorenal syndrome is not well understood, and a uniform definition is lacking." | ( Francis, G, 2006) |
"Dhat syndrome is a widely recognized condition from the Indian subcontinent with fatigue and preoccupation with semen loss as the main presenting symptoms." | ( Mohan, R; Ranjith, G, 2006) |
"Propofol infusion syndrome is a rare but often fatal syndrome, characterized by lactacidosis, lipaemic plasma and cardiac failure, associated with propofol infusion over prolonged periods of time." | ( Bein, B; Fudickar, A; Tonner, PH, 2006) |
"Barth syndrome is an X-linked disease presenting with cardiomyopathy and skeletal muscle weakness." | ( Condell, M; Edelman-Novemsky, I; Ma, J; Plesken, H; Ren, M; Schlame, M; Xu, Y, 2006) |
"Mirizzi syndrome is a rare complication of gallstone disease (GSD)." | ( Kapoor, VK; Kumar, A; Prasad, TL; Saxena, R; Sikora, SS, 2006) |
"The onset of this syndrome is usually 5-21 days after ATRA treatment when white blood cell counts are rising more than 10,000/cu." | ( Leelasiri, A; Mongkolsritrakul, W; Numbenjapol, T; Prayoonwiwat, W; Srisawat, C, 2005) |
"PEHO syndrome is a rare symptom complex of severe progressive encephalopathy, edema, hypsarrhythmia, and optic atrophy." | ( Boltshauser, E; Huisman, TA; Klein, A; Straube, T; Werner, B, 2006) |
"The floppy iris syndrome is likely to represent a continuum of severity." | ( Borooah, S; Chadha, V; Singh, J; Styles, C; Tey, A, 2007) |
"Brugada syndrome is an inherited disease associated with sudden cardiac death." | ( Antzelevitch, C; Brugada, R; Burashnikov, E; Crijns, HJ; Delhaas, T; Dumaine, R; Hong, K; Oliva, A; Rodriguez, LM; Sicouri, S; Timmermans, C; Vernooy, K, 2006) |
"Brugada syndrome is an autosomal dominant trait with right bundle branch block and ST elevation." | ( Barness, LA; Gilbert-Barness, E, 2006) |
"This syndrome is consistent with a novel mutation in the FBN1 gene." | ( Allingham, RR; Challa, P; Freedman, SF; Hauser, MA; Luna, CC; McDonald, MT; Pericak-Vance, M; Yang, J, 2006) |
"Postpump syndrome is associated with systemic inflammation." | ( Beauchamp, G; Blaise, GA; Gauvin, D; Hubert, B; Pang, D; Radomski, A; Radomski, MW; Taha, R; Troncy, E, 2006) |
"Blau syndrome is a rare hereditary granulomatous disease presenting in patients of young age with exanthema, granulomatous arthritis and uveitis." | ( Byg, KE; Milman, N, 2006) |
"Ross syndrome is a degenerative disorder that progressively involves different fibre populations, starting with autonomic fibres and then involving the unmyelinated and myelinated sensory fibres." | ( Bhatti, SM; Chemmanam, T; Kadyan, RS; Pandian, JD, 2007) |
"Puffy hand syndrome is a complication of intravenous drug abuse, which has no current available treatment." | ( Arrault, M; Vignes, S, 2006) |
"Cyclic vomiting syndrome is a disorder characterized by recurrent attacks of vomiting and intervals of normal health between vomiting episodes averaging 2-4 weeks." | ( Köse, G; Olmez, A; Turanli, G, 2006) |
"Leukocytosis and RA syndrome are associated with ATO and baseline leukocyte count respectively, and there is distinct link between leukocytosis and RA syndrome." | ( Hou, KZ; Jin, B; Liu, YP; Yu, P, 2006) |
"Kounis syndrome is the concurrence of acute coronary syndromes with conditions associated with activation of interacting inflammatory cells including allergic or hypersensitivity and anaphylactic or anaphylactoid insults." | ( Ioannidis, TI; Karpeta, MZ; Kounis, GN; Kounis, NG; Mazarakis, A; Notaras, SP; Rallis, DG; Tsintoni, AC, 2007) |
"Pisa syndrome is a type of dystonia that has been associated with both typical and atypical antipsychotics." | ( Arora, M; Praharaj, SK; Sarkar, S, 2006) |
"Stickler syndrome is an autosomal dominant multisystem disorder with characteristic midface hypoplasia, retromicrognathia, cleft palate and a "moon-shaped" appearance." | ( Kişnişçi, R; Küçükyavuz, Z; Ozkaynak, O; Tüzüner, AM, 2006) |
"Gillespie syndrome is a rare variant form of aniridia, characterized by mental retardation, nonprogressive cerebellar ataxia, and iris hypoplasia." | ( Egel, RT; Hilchie-Schmidt, C; Howarth, RJ; Robinson, D; Ticho, BH; Traboulsi, EI, 2006) |
"Blau syndrome is a rare autosomal-dominant disease that can lead to severe visual impairment." | ( Dahan, K; Snyers, B, 2006) |
"Sandifer Syndrome is an uncommon clinical entity characterized by gastroesophageal reflux, irritability and abnormal movements of the body and contortions of the neck." | ( Kabakuş, N; Kurt, A, 2006) |
"Propofol infusion syndrome is a rare but frequently fatal complication in critically ill children who are given prolonged high-dose infusions of the drug." | ( Coritsidis, G; Rehman, Z; Sabsovich, I; Yunen, J, 2007) |
"This syndrome is usually reported to occur in alkaline urine." | ( Bar-Or, D; Bar-Or, R; Craun, ML; Garrett, RE; Rael, LT; Statz, J, 2007) |
"Blau syndrome is a hereditary granulomatous disease caused by mutations in the CARD15 gene that is diagnosed in children of young age with exanthema/erythema, arthritis/periarthritis and/or uveitis." | ( Ahrens, P; Andersen, CB; Fledelius, H; Hansen, A; Milman, N; Nielsen, FC; Nielsen, OH; van Overeem Hansen, T, 2006) |
"Although Boerhaave syndrome is generally considered to have poor prognosis, conservative therapy may be effective in select cases with early detection of the perforation." | ( Katsuno, A; Makino, H; Matsuda, A; Matsutani, T; Miyashita, M; Nomura, T; Sasajima, K; Sasaki, J; Tajiri, T, 2006) |
"Wyburn-Mason syndrome is a distinct congenital neurocutaneous entity comprised of ipsilateral arteriovenous malformations (AVMs) of the midbrain, vascular abnormalities affecting the visual pathway, and facial nevi." | ( Dayani, PN; Sadun, AA, 2007) |
"Trousseau's syndrome is a prothrombotic state associated with malignancy that is poorly understood pathophysiologically." | ( Bharwani, LD; Del Conde, I; Dietzen, DJ; López, JA; Pendurthi, U; Thiagarajan, P, 2007) |
"Garcin's syndrome is a very rare neurosurgical entity." | ( Alapatt, JP; Premkumar, S; Vasudevan, RC, 2007) |
"ICE syndrome is commonly progressive and frequently complicated by secondary glaucoma and corneal decompensation." | ( Denis, P, 2007) |
"Barth syndrome is a rare, X-linked recessive disorder that affects only boys." | ( Henry, AE; Kelly, RI; Mazzocco, MM, 2007) |
"Spitzer-Weinstein syndrome is a rare disorder characterized by thiazide responsive hyperkalemia and normal anion gap metabolic acidosis, similar to Gordon syndrome." | ( Chang, CT; Cheng, JW; Hung, CC; Weng, CH; Wu, MS; Yang, CW, 2007) |
"CHARGE syndrome, is associated with genital hypoplasia, feeding difficulties and delayed puberty." | ( Blake, KD; Cummings, EA; Forward, KE, 2007) |
"Acute coronary syndrome is an inflammatory disease, during which the complement cascade is activated." | ( Haario, H; Lokki, ML; Meri, S; Nieminen, MS; Palikhe, A; Seppänen, M; Sinisalo, J; Valtonen, V, 2007) |
"Van der Woude syndrome is an autosomal dominant disorder manifested in clefts of the lip and/or palate and lip pits." | ( Andreasen, N; Murray, JC; Nopoulos, P; Richman, L; Schutte, B, 2007) |
"Dhat syndrome is a widely recognized clinical condition in the Indian subcontinent characterized by excessive preoccupation with semen loss as the main presenting complaint." | ( Aggarwal, N; Dhikav, V; Gupta, S; Jadhavi, R; Singh, K, 2008) |
"Pendred syndrome is a rare, inherited, autosomal recessive disorder with an iodine organification defect of thyroxin produced by the thyroid gland." | ( Pradeep, AR; Sharma, CG, 2007) |
"CINCA syndrome is an autoinflammatory syndrome characterized by neonatal onset of urticarial rash, central nervous system lesions and arthropathy." | ( Matsubayashi, T; Sugiura, H, 2007) |
"Diogenes syndrome is a syndrome described in the clinical literature in elderly individuals characterized by social isolation and extreme squalor." | ( Byard, RW; Tsokos, M, 2007) |
"The glucagonoma syndrome is a rare disease in which a typical skin lesion, necrolytic migratory erythema, is often one of the presenting symptoms." | ( Mensing, CH; Sander, CA; Stark, I, 2008) |
"Adams-Oliver syndrome is characterized by aplasia cutis congenita and variable degrees of terminal transverse limb defects." | ( Aglan, MS; Ashour, AM; Temtamy, SA; Zaki, MS, 2007) |
"Parkes Weber syndrome is a disorder characterized by cutaneous blush, arteriovenous fistula, and overgrowth of the affected limb." | ( Brunetti-Pierri, N; Levy, ML; Reid Sutton, V; Seidel, GF, 2007) |
"The CCFDN syndrome is a complex phenotype involving multiple systems, characterized by facial dysmorphism, congenital cataracts, microcorneae, delayed early motor and intellectual development, hypogonadotrop hypogonadism, hypomyelination of the peripheral nervous system, and serious complications related to general anaesthesia." | ( Molnár, MJ; Neuwirth, M; Rebecca, G; Siska, E, 2007) |
"Mazabraud's syndrome is a rare disorder, the main characteristics of which are fibrous dysplasia of bone associated with intramuscular myxomas." | ( Chatha, DS; Phancao, JP; Singnurkar, A; Stern, J, 2007) |
"Engraftment syndrome is notable for a rapid recovery of the white blood cell count after hematopoietic stem cell transplantation." | ( Couriel, D; Dai, E; Kim, SK, 2007) |
"Cogan's syndrome is a rare inflammatory disease characterized by nonsyphilitic ocular interstitial keratitis associated with hearing loss and vestibular impairment." | ( Arima, T; Inoue, Y; Kohno, Y; Shimojo, N; Suzuki, S; Tomemori, T; Tomiita, M, 2007) |
"The 1p36 deletion syndrome is caused by submicroscopic deletion in the subtelomeric region of chromosome 1." | ( Imai, K; Kagitani-Shimono, K; Kamio, N; Kurosawa, K; Nabatame, S; Nagai, T; Okinaga, T; Ozono, K, 2007) |
"The red ear syndrome is a rare syndrome originally described by Lance in 1994." | ( Dodick, DW; Purdy, RA, 2007) |
"Liddle's syndrome is caused by gain-of-function mutations in the beta and gamma subunits of ENaC, resulting in enhanced Na reabsorption and hypertension." | ( Cotton, CU; Falin, RA, 2007) |
"Keipert syndrome is a rare condition comprising sensorineural deafness associated with facial and digital abnormalities." | ( Amor, DJ; Bahlo, M; Bankier, A; Dahl, HH, 2007) |
"Iliotibial band syndrome is the leading cause of lateral knee pain in runners." | ( Davis, I; Hamill, J; Noehren, B, 2007) |
"Diagnosis of Tachon syndrome is made by elimination of the usual medical and surgical causes, and physicians performing local injections should be aware of this phenomenon." | ( Hajjioui, A; Nys, A; Poiraudeau, S; Revel, M, 2007) |
"Pearson syndrome is a rare mitochondrial disorder characterized by sideroblastic anemia, liver disease, renal tubulopathy and exocrine pancreas deficiency." | ( Augoustides-Savvopoulou, P; Farmaki, E; Karatza, E; Kefala-Agoropoulou, K; Lazaridou, A; Roilides, E; Tsantali, H; Tsiouris, J, 2007) |
"Cotard syndrome is a rare condition, which its main symptom is nihilistic delusion." | ( Ghaffari-Nejad, A; Kerdegari, M; Reihani-Kermani, H, 2007) |
"Pai syndrome is one subset, which is characterized by mild hypertelorism, midline cleft lip, nasal and facial polyps, pericallosal lipoma, ocular anomalies, and normal neuropsychological development." | ( Beltrán, C; Guion-Almeida, ML; Mellado, C; Richieri-Costa, A, 2007) |
"This syndrome is common among a number of neurological diseases like patients with a stroke or traumatic brain injury (TBI), patients with amyotrophic lateral sclerosis (ALS), multiple sclerosis (MS), as well as dementias such as Alzheimer;s disease (AD), and motor disorders such as Parkinson;s disease (PD)." | ( Mimica, N; Presecki, P, 2007) |
"Rumination syndrome is often accompanied by heterogeneous conditions such as postprandial gastroesophageal reflux, various abnormalities in esophageal manometric tests and delayed gastric emptying." | ( Kim, JH; Kim, JJ; Lee, H; Park, EH; Rhee, JC; Rhee, PL; Son, HJ, 2007) |
"Corticobasal syndrome is characterized by cortical dysfunction and L-dopa-unresponsive Parkinsonism, with asymmetrical onset of clinical presentation and evidence of atrophy and/or hypometabolism at neuroimaging." | ( Ghetti, B; Grafman, J; Huey, ED; Murrell, JR; Pietrini, P; Spina, S; Wassermann, EM, 2007) |
"Morvan's syndrome is characterized by peripheral nervous system hyperexcitibility (myokymia and neuromyotonia), hyperhydrosis, sleep disorder, limb paresthesias, and encephalopathy." | ( Anderson, CA; Filley, CM; Hudson, LA; Johnston-Brooks, C; Rollins, YD; Tyler, KL, 2008) |
"Pendred syndrome is due to loss-of-function mutations of Slc26a4, which codes for the HCO(3)(-) transporter pendrin." | ( Singh, R; Wangemann, P, 2008) |
"Costello syndrome is a mental retardation syndrome characterized by high birth weight, postnatal growth retardation, coarse face, loose skin, cardiovascular problems, and tumor predisposition." | ( Chmara, M; Cools, J; de Ravel, TJ; Denayer, E; Devriendt, K; Frijns, JP; Legius, E; Parret, A; Rybin, V; Scheffzek, K; Schubbert, S; Shannon, K; Vogels, A, 2008) |
"Raine syndrome is an autosomal recessive condition with generalized osteosclerosis, characteristic facial dysmorphism and brain abnormalities including intracerebral calcifications." | ( Blaser, S; Chitayat, D; Chong, K; Friedberg, T; Keating, S; Shannon, P; Superti-Furga, A; Toi, A; Unger, S, 2007) |
"Liddle's syndrome is an autosomal dominant form of human hypertension, caused by gain-of-function mutations of the epithelial sodium channel (ENaC) which is expressed in aldosterone target tissues including the distal colon." | ( Bertog, M; Cuffe, JE; Hartner, A; Hilgers, KF; Hummler, E; Korbmacher, C; Porst, M; Pradervand, S; Rossier, BC, 2008) |
"Sandifer's syndrome is a gastrointestinal disorder with neurological features." | ( Bilic, E; Cerimagic, D; Ivkic, G, 2008) |
"CHARGE syndrome is an autosomal dominant condition that is caused by mutations in the CHD7 gene." | ( Admiraal, RJ; Brunner, HG; Hendriks, Y; Hoefsloot, LH; Jongmans, MC; Magee, A; van de Laar, I; van der Donk, KP; van Ravenswaaij, CM; Verheij, JB; Walpole, I, 2008) |
"The anti-synthetase syndrome is associated with inflammatory myopathy, interstitial lung disease, polyarthritis, Raynaud's phenomenon and typical skin lesions known as "mechanic's hands"." | ( Dayer, E; Jordan Greco, AS; Métrailler, JC, 2007) |
"CINCA syndrome is a genetic disorder characterized by early onset of recurrent fever, rash, progressive articular and neurological involvement." | ( Khemani, C; Khubchandani, R, 2007) |
"Orbital infarction syndrome is defined as ischemia of global intraorbital structures such as extraocular muscles, optic nerves, and retina." | ( Poungvarin, N; Wiroteurairueng, T, 2007) |
"Spinal CSF leak syndrome is a unique disorder caused by spinal CSF leak." | ( Choi, CG; Choi, JW; Chung, SJ; Jeong, KS; Kim, JS; Kim, SJ; Lee, DH; Lee, JH; Suh, DC; Yoo, HM; Yun, SC, 2008) |
"The yellow nail syndrome is a rare disease." | ( Kindt, SE; Thuesen, AD, 2008) |
"PFAPA or Marshall's syndrome is characterized by abrupt onset of periodic episodes of high fever accompanied by aphthous stomatitis, pharyngitis and cervical adenitis, often associated with headache and / or abdominal or joint pain." | ( Buonaiuto, C; Cirillo, N; Femiano, F; Gombos, F; Lanza, A, 2008) |
"Beare-Stevenson syndrome is characterized by cutis gyrata, acanthosis nigricans, skin furrows, skin tags, craniosynostosis, Crouzonoid-like features in some cases and cloverleaf skull in others, anogenital anomalies, and prominent umbilical stump." | ( Cosentino, V; Costa-Lima, MA; Fonseca, R; Orioli, IM, 2008) |
"Pendred syndrome is an autosomal recessive disorder characterized by congenital sensorineural deafness, goiter, and impaired iodide organification." | ( Keelawat, S; Khovidhunkit, W; Plengpanich, W; Saengpanich, S; Shotelersuk, V; Sirisalipoch, S; Snabboon, T; Sridama, V; Sunthornyothin, S; Suwanwalaikorn, S, 2007) |
"The insulinoma syndrome is marked by fasting hypoglycemia and inappropriate elevations of insulin." | ( Abu-Asab, M; Cochran, C; Gorden, P; Lenz, P; Libutti, SK; Lodish, MB; Pingpank, JF; Powell, AC; Tsokos, M, 2008) |
"Axenfeld-Rieger syndrome is an ocular anterior segment dysgenesis, autosomal dominantly inherited, commonly associated with glaucoma and systemic anomalies." | ( Kamińska, A; Pawluczyk-Dyjecińska, M; Sokołowska-Oracz, A; Szaflik, JP, 2007) |
"Susac syndrome is a rare disorder with a clinical triad of encephalopathy, branch retinal artery occlusions, and hearing loss." | ( Laroche, L; Momtchilova, M; Pelosse, B; Saliba, M, 2007) |
"Evans syndrome is a rare cause of hemolysis in pediatric patients." | ( Amrolia, P; Ashworth, M; Connor, P; Haworth, S; Moledina, S; Veys, P, 2008) |
"Trigeminal trophic syndrome is a rare condition resulting from self-manipulation of the skin after a peripheral or central injury to the trigeminal system." | ( Fruhauf, J; Kerl, H; Massone, C; Mullegger, RR; Schaider, H, 2008) |
"The buried bumper syndrome is a rare and late complication of percutaneous endoscopic gastrostomy tube placement." | ( Dağalp, K; Erdil, A; Genç, H; Ilica, AT; Uygun, A, 2008) |
"Lennox-Gastaut syndrome is a catastrophic pediatric epilepsy syndrome characterized by multiple types of treatment-resistant seizures and high rates of seizure-related injury." | ( Arroyo, S; Glauser, T; Kluger, G; Krauss, G; Perdomo, C; Sachdeo, R, 2008) |
"PFAPA syndrome is the most frequent cause of recurrent fever and is diagnosed based on unspecific criteria." | ( Hofer, M; Rossetti, G, 2008) |
"One-and-a-half syndrome is a clinical disorder featuring extraocular movements characterized by horizontal conjugate gaze palsy with internuclear ophthalmoplegia." | ( Chu, SJ; Hsu, WH; Tsai, WC; Tsao, YT, 2008) |
"This syndrome is associated with bacterial urinary tract infections that produce sulfatase or phosphatase." | ( Baba, S; Fujita, T; Kurosaka, S; Matsumoto, K; Satoh, T; Tsumura, H, 2008) |
"Floating-Harbor syndrome is a rare disorder which is clinically characterized by short stature, retarded speech development, delayed bone ages, triangular face, bulbous nose and thin lips." | ( Erkek Atay, N; Genc, G; Kulali, F; Sarac, A, 2008) |
"Acute chest syndrome is the leading cause of acute respiratory system dysfunction and a leading cause of morbidity and mortality among patients with sickle cell disease." | ( Gauger, C; Kissoon, N; Sullivan, KJ, 2008) |
"Milk alkali syndrome is a cause of hypercalcaemia, renal failure and alkalosis, and is potentially reversible if detected early and the calcium and alkali source withdrawn." | ( Irtiza-Ali, A; Kalra, PA; Lamerton, E; Pennell, A; Waldek, S, 2008) |
"Van der Woude syndrome is the most common cause of syndromic orofacial clefting." | ( Cheng, J; Lee, ST; Lim, EC; Por, YC; Tan, EC; Yap, SH; Yeow, V, 2008) |
"Panayiotopoulos syndrome is a benign childhood epileptic illness characterized by episodic autonomic symptoms." | ( Dandge, V; Girish, M; Mujawar, N, 2008) |
"The AIH-PBC overlap syndrome is the most common form, affecting almost 10% of adults with AIH or PBC." | ( Beuers, U; Rust, C, 2008) |
"The Timothy syndrome is a multisystem disorder associated with the mutation of a Gly residue (G402 or G406) in the Ca(v)1." | ( Cens, T; Charnet, P; Leyris, JP, 2008) |
"Pendred syndrome is a recessive autosomal disorder characterized by thyroid goiter and sensorineural hearing loss." | ( Bianchi, B; Bigozzi, M; Pela, I, 2008) |
"Trigeminal trophic syndrome is a rare entity characterized by the presence of ala nasi ulceration, trigeminal anesthesia, and paresthesia." | ( Deliduka, S; Lane, JE, 2008) |
"The orbital apex syndrome is defined by the association of visual loss, ophtalmoplegia, blepharoptosis, proptosis along with forehead and upper eyelid anesthesia." | ( Aderdour, L; Baha Ali, T; Hassani, R; Jamali, A; Khoumiri, R; Moutaouakil, A; Ouaggag, B; Raji, A, 2008) |
"The triple A syndrome is a rare autosomal recessive disease that is characterised by the triad of adrenocorticotropin (ACTH)-resistant adrenal insufficiency, achalasia and alacrima." | ( Hasanhodzic, M; Huebner, A; Kind, B; Koehler, K; Milenkovic, T; Tahirovic, H; Toromanovic, A; Zdravkovic, D, 2009) |
"Charles Bonnet syndrome is an underrecognized condition characterized by complex visual hallucinations, ocular problems causing visual deterioration and preserved cognitive status." | ( Franco, JG; Valencia, C, 2008) |
"Hughes-Stovin syndrome is an exceedingly rare disorder of unknown etiology, and it is characterized by multiple pulmonary artery aneurysms and peripheral venous thrombosis." | ( Ahn, JK; Cha, HS; Hwang, JW; Kim, H; Koh, EM; Lee, J; Noh, JW, 2008) |
"Rowell syndrome is a rare distinctive entity first described in 1963 by Rowell and coworkers." | ( Azevedo, F; Baudrier, T; Duarte, AF; Mota, A; Pereira, M, 2008) |
"The triple A syndrome is caused by autosomal recessively inherited mutations in the AAAS gene and is characterized by achalasia, alacrima and adrenal insufficiency as well as progressive neurological impairment." | ( Bönnemann, C; Brockmann, K; Gärtner, J; Huebner, A; Kind, B; Koehler, K; Krumbholz, M, 2008) |
"Pai syndrome is a rare form of frontonasal dysplasia, first described in 1987." | ( Carlini, C; Fasciolo, A; Pini Prato, A; Pisano, M; Seymandi, PL; Vaccarella, F, 2008) |
"Pendred syndrome is an autosomal recessive disorder characterized by sensorineural hearing impairment, presence of goiter, and a partial defect in iodide organification, which may be associated with insufficient thyroid hormone synthesis." | ( Kopp, P; Pesce, L; Solis-S, JC, 2008) |
"Detection of DRESS syndrome is dependent on the exclusion of a variety of diseases with similar manifestations and may be delayed in time." | ( Baldaranov, I; Gancheva, T; Ganeva, M; Hristakieva, E; Lazarova, R; Troeva, J; Tzaneva, V; Vassilev, I, 2008) |
"Ovarian remnant syndrome is a complication of bilateral ovariohysterectomy." | ( Akpolat, N; Kumru, S; Risvanli, A; Yildiz, S, 2008) |
"Propofol infusion syndrome is a rare but frequently lethal complication of propofol use." | ( Cremer, OL; Kalkman, CJ; Otterspoor, LC, 2008) |
"PHACES syndrome is a neurocutaneous condition characterized by the coexistence of large facial haemangiomas and at least one feature among posterior fossa malformations, cardiac and arterial anomalies, eye defects and sternal clefting." | ( Baldassarre, G; Corrias, A; Gastaldi, R; Mussa, A; Rosaia De Santis, L; Silengo, MC, 2008) |
"Sebastian syndrome is characterized by enlarged platelets and Döhle-like body leukocyte inclusions." | ( Clapp, WL; Harris, NS; Kedar, A; Redman, R; Shunkwiler, SM, 2008) |
"Vasoplegia syndrome is described along with the results of studies that have shown benefits of MB in the treatment of VS." | ( Holt, DW; McRobb, CM, 2008) |
"Austrian syndrome is seen infrequently in this antibiotic era but is still associated with a poor outcome." | ( Ahmad, H; Dalal, A, 2008) |
"Stiff skin syndrome is a sclerodermalike disorder that presents in infancy or early childhood with rock-hard skin, limited joint mobility, and mild hypertrichosis in the absence of visceral or muscle involvement, immunologic abnormalities, or vascular hyperreactivity." | ( Connolly, MK; Frieden, IJ; Gilliam, AE; Liu, T; McCalmont, TH; Williams, ML, 2008) |
"Stiff skin syndrome is characterized by an early, insidious onset of stony-hard skin, often with associated contracturelike joint restriction, hypertrichosis, and postural and thoracic wall abnormalities." | ( Connolly, MK; Frieden, IJ; Gilliam, AE; Liu, T; McCalmont, TH; Williams, ML, 2008) |
"Brooke-Spiegler syndrome is an autosomal dominant tumor predisposition disorder." | ( Bauer, B; Frank, J; Hamm, H; Parren, LJ, 2008) |
"Lemierre syndrome is a disease that every pediatrician must know." | ( Bailly, C; Berlioz, M; Boutté, P; Passalidou, P, 2008) |
"The swollen hands syndrome is probably due to chronic Mycobacterium leprae tenosynovitis." | ( Boyé, T; Carli, P; Carsuzaa, F; Graffin, B; Landais, C; Leyral, G, 2009) |
"Renal nutcracker syndrome is an uncommon clinical condition caused by compression of the left renal vein." | ( Gonul, II; Ozcan, A; Oztas, E; Sakallioglu, O, 2009) |
"CHARGE syndrome is a heterogeneous genetic disorder comprising multiple congenital anomalies." | ( Blake, K; Corsten, G; Davenport, SL; Hartshorne, TS; MacCuspie, J; Roy, M, 2009) |
"May-Thurner syndrome is characterized by left common iliac obstruction secondary to compression of the left iliac vein by the right common iliac artery against the fifth-lumbar vertebra." | ( Arko, FR; Davis, CM; DeMuth, RP; Journeycake, JM; Murphy, EH, 2009) |
"This complex syndrome is referred to as critical illness-related corticosteroid insufficiency (CIRCI) and is defined as inadequate corticosteroid activity for the severity of the illness of a patient." | ( Marik, PE, 2009) |
"Carpenter syndrome is a rare autosomal recessive disorder that belongs to a group of rare craniosynostosis syndromes (Bull Soc Med Paris 1906;23:1310)." | ( Cottrill, C; Hidestrand, P; Vasconez, H, 2009) |
"Blau syndrome is a rare, autosomal-dominant, autoinflammatory disorder characterized by granulomatous arthritis, uveitis, and dermatitis." | ( Chen, H; Davey, MP; Kurz, P; Lu, H; Martin, TM; Planck, SR; Rosé, CD; Rosenbaum, JT; Zhang, Z, 2009) |
"Cogan's syndrome is a rare multisystem disorder of unknown etiology which is characterized by nonsyphilitic interstitial keratitis, vestibuloauditory dysfunction and systemic vasculitis." | ( Bakalianou, K; Danilidou, K; Iavazzo, C; Kondi-Pafiti, A; Papadias, K; Salakos, N, 2008) |
"Shwachman-Diamond syndrome is a hereditary disorder characterized by pancreatic insufficiency and bone marrow failure." | ( Kuijpers, TW; Orelio, C, 2009) |
"Puffy hand syndrome is an unrecognized complication of intravenous drug abuse." | ( Arrault, M; Gaouar, F; Vignes, S, 2009) |
"While these syndromes are passed on in neurological textbooks, their relevance in clinical neurology remains to be elucidated." | ( Marx, JJ; Thömke, F, 2009) |
"Hand-foot syndrome is one of the more frequent toxicity related to sorafenib." | ( Desmedt, E; Digue, L; Milano, G; Mortier, L; Ravaud, A, 2009) |
"Morning glory syndrome is often associated with basal encephalocele." | ( Aydin, AL; Ozer, AF; Sasani, M, 2009) |
"Red Baby Syndrome is a new disease seen in infants and young children." | ( Agarwal, R; Jayaram Paniker, CK; Khare, S; Lal, S; Mampilly, N; Sasidharan, CK; Sugathan, P, 2009) |
"These syndromes are all characterized by recurrent episodes of fever and systemic inflammation; however, some syndromes have unique historical and physical features that can help with making a diagnosis." | ( Hoffman, HM; Simon, A, 2009) |
"The Segawa syndrome is an autosomal dominant form of guanosine triphosphate cyclohydrolase deficiency, resulting in decreased dopamine and serotonin levels, typically presenting as a dopa-responsive dystonia." | ( Peuskens, J; Rooseleer, J; Sienaert, P, 2009) |
"Birt-Hogg-Dubé syndrome is an autosomal dominant genodermatosis characterized by the presence of fibrofolliculomas, renal cancer, pulmonary cysts, and spontaneous pneumothorax." | ( Ferrando, J; Fuertes, I; Mascaró-Galy, JM, 2009) |
"Atypical Cogan's syndrome is more commonly associated with systemic manifestations than typical disease, and may be refractory to immunosuppressive treatment." | ( Harney, S; Molloy, M; Murphy, G; Shanahan, F; Sullivan, MO, 2009) |
"The WHIM syndrome is a rare immunological disorder characterized by warts, hypogammaglobulinemia, infections, and myelokathexis." | ( Fujii, Y; Higashino, H; Kaneko, K; Nakamura, M; Takaya, J; Taniuchi, S, 2009) |
"47 XYY syndrome is a sporadic condition in which the human male receives an extra Y chromosome." | ( Chew, FL; Visvaraja, S, 2009) |
"Lemierre's syndrome is a potentially fatal disease that usually presents with oropharyngeal infection, followed by sepsis, thrombosis of the internal jugular vein and septic emboli." | ( Brandjes, DP; Gerdes, VE; Soesan, M; van Gorp, EC; van Wissen, M, 2009) |
""Hand-foot" syndrome is a well-documented, dermatologic reaction after several chemotherapeutic agents with wild spectrum of symptoms." | ( Emerich, J; Gołka, KA; Kobierski, J; Milczek, T, 2009) |
"Piriformis syndrome is a rare cause of hip and foot pain which may be due to sciatic nerve irritation because of anatomic abnormalities of sciatic nerve and piriformis muscle or herniated disc, facet syndrome, trochanteric bursit, sacroiliac joint dysfunction, endometriosis and other conditions where sciatic nerve is irritated." | ( Akçali, D; Arslan, E; Babacan, A; Cizmeci, P; Köseoğlu, H; Oktar, S; Taş, A; Zinnuroğlu, M, 2009) |
"Satoyoshi syndrome is a rare multisystemic disease of presumed autoimmune etiology characterized by progressive painful intermittent muscle spasms, diarrhea frequently associated with malabsorption, alopecia, skeletal abnormalities and endocrine disorders with a poor long-term prognosis due to early crippling." | ( Castiglioni, C; Díaz, A; Hernández, C; Mericq, V; Moënne, K; Salvador, F, 2009) |
"Post-cardiac injury syndrome is an inflammatory process involving the pleura and pericardium secondary to cardiac injury and can develop following transvenous pacemaker insertion." | ( Cevik, C; Corona, R; Nugent, K; Schanzmeyer, E; Wilborn, T, 2009) |
"Propofol infusion syndrome is a feared complication of propofol use, especially at high infusion rates for prolonged periods." | ( Hoel, R; Iyer, VN; Rabinstein, AA, 2009) |
"Silent sinus syndrome is rare and its pathophysiology is unclear." | ( Babin, E; Bertrand, M; Choussy, O; Gardea, E; Retout, A, 2009) |
"Fahr's syndrome is characterized by symmetrical and bilateral intracerebral calcifications, located in the basal ganglia and mostly associated with a phosphorus calcium metabolism disorder." | ( Abdelhedi, H; Chrifi, J; Hamza, M; Khammassi, N; Mohsen, D; Tougourti, MN, 2010) |
"A masquerade syndrome is the initial presentation in 1-3% of retinoblastomas." | ( Català-Mora, J; Medina-Zurinaga, M; Parareda-Salles, A; Prat-Bartomeu, J; Vicuña-Muñoz, CG, 2009) |
"Choreoathetotic syndromes are frequently observed in children after congenital cardiopathy surgery." | ( Alessandrini, F; Avesani, M; Bertolasi, L; Bovi, P; Buffone, CE; Moretto, G; Musso, A; Ottaviani, S; Passarin, MG; Petrilli, G; Romito, S; Santini, F, 2010) |
"Silent sinus syndrome is a clinical entity with the constellation of progressive enophthalmos and hypoglobus due to gradual collapse of the orbital floor with opacification of the maxillary sinus, in the presence of subclinical maxillary sinusitis." | ( Arikan, OK; Muluk, NB; Onaran, Z; Yazici, I; Yilmazbaş, P, 2009) |
"Cyclic vomiting syndrome is an increasingly recognized cause of nausea and vomiting in adults." | ( Kowalczyk, M; Parkman, H; Ward, L, 2010) |
"The PRKAG2 cardiac syndrome is an inherited metabolic disease of the heart characterized by excessive myocardial glycogen deposition." | ( Abraham, A; Beanlands, RS; Dasilva, J; Dekemp, RA; Garrard, L; Gollob, MH; Green, MS; Ha, AC; Renaud, JM; Thorn, S; Yoshinaga, K, 2009) |
"The PRKAG2 cardiac syndrome is associated with a reduction of glucose uptake in adult patients affected with this genetic condition." | ( Abraham, A; Beanlands, RS; Dasilva, J; Dekemp, RA; Garrard, L; Gollob, MH; Green, MS; Ha, AC; Renaud, JM; Thorn, S; Yoshinaga, K, 2009) |
"Because this syndrome is rare in Japan, histopathological examination was necessary to diagnose and treat this patient." | ( Kanno, T; Ohira, H; Suzuki, E, 2010) |
"Adams-Oliver syndrome is a rare congenital disorder that includes congenital scalp and skull defects, variable degrees of terminal transverse limb anomalies, and cardiac malformations." | ( Fried, A; Khashab, ME; Khashab, YE; Nejat, F; Pierce, SD; Rhee, ST, 2009) |
"Young's syndrome is another rare condition, characterized by chronic sinopulmonary infection and obstructive azoospermia." | ( Enting, D; Forster, M; Nicholson, AG; O'Brien, M; Popat, S, 2010) |
"Lemierre's syndrome is a rare disease in young otherwise healthy people showing septic embolism in the lungs and peripheral vessels." | ( Braunbeck, A; Daecke, W; Fiebig, C; Geiger, EV; Maier, M; Marzi, I; Weber, R, 2010) |
"Nicolau syndrome is rare cutaneous adverse reaction following injection of various drugs." | ( Canter, HI; Okan, G, 2010) |
"Klippel-Trénaunay syndrome is a rare disorder characterized by the triad of capillary or cavernous hemangiomas, venous varicosities or malformations, and soft tissue or bone hypertrophy." | ( Holak, EJ; Pagel, PS, 2010) |
"Blau syndrome is a rare, multisystem, autosomal-dominant, and granulomatous disorder caused by susceptibility variants in the NOD2 gene." | ( Akil, I; Canda, E; Cirak, S; Franke, A; May, S; Nese, N; Ozguven, A; Ozkol, M; Yilmaz, O, 2010) |
"Silent sinus syndrome is a rare disorder affecting the maxillary sinus unilaterally, characterized by ipsilateral enophthalmos and hypoglobus." | ( Anghinoni, ML; Ferri, A; Oretti, G; Sesenna, E, 2010) |
"Milk-alkali syndrome is no longer a merely a historical curiosity; it is currently the third most common cause of hypercalcemia." | ( Centor, R; Ulett, K; Wells, B, 2010) |
"Anti-synthetase syndrome is a serologically defined disorder clinically characterized by inflammatory myositis, interstitial lung disease, and other systemic findings." | ( Bunyard, M; Khan, M; Lowder, CY; Tarabishy, AB, 2010) |
"The syndrome is characterized by mental impairment, frequent seizures of multiple types that are particularly resistant to treatment, and high rates of seizure-related injury." | ( Benedict, A; Maclaine, G; Verdian, L, 2010) |
"Brooke-Spiegler syndrome is a rare, autosomal dominant disease characterized by multiple skin appendage tumors caused by various mutations in the CYLD gene on chromosome 16q12-q13." | ( Enk, AH; Froster, UG; Helmbold, P; Näher, H; Nümann, A; Scholz, IM, 2010) |
"Autoinflammatory syndromes are diseases manifested by recurrent episodes of fever and inflammation in multiple organs." | ( Barbosa, CM; Hilário, MO; Len, CA; Matos, TC; Petry, DG; Terreri, MT, 2009) |
"Hand-foot syndrome is a common adverse effect of therapy with capecitabine (Xeloda) for the treatment of various carcinomas." | ( Fraga, G; Gadzia, J; Latif, S, 2010) |
"Pendred syndrome is an autosomal recessive disorder characterized by sensorineural deafness, goiter and a partial defect in iodide organification." | ( Bizhanova, A; Kopp, P, 2010) |
"DRESS syndrome is a life-threatening adverse reaction characterized by skin rashes, fever, leukocytosis with eosinophilia or atypical lymphocytosis, lymph node enlargement, and liver or renal dysfunctions." | ( Albayrak, A; Albayrak, F; Cerrah, S; Dursun, H; Uyanik, A; Yildirim, R, 2012) |
"Purple urine bag syndrome is an uncommon condition characterised by purple colouring of the urine in a chronically catheterised patient." | ( D'Souza, DL; Hirzallah, MI, 2010) |
"Several of these syndromes are associated with an encephalopathy that characteristically shows episodes of rapid neurological deterioration and the development of acute cerebral lesions." | ( Bindoff, LA; Engelsen, BE; Ersland, L; Moen, G; Mørk, SJ; Neckelmann, G; Tzoulis, C; Viscomi, C; Zeviani, M, 2010) |
"The pulmonary renal syndrome is a symptom complex with simultaneous involvement of the kidneys and lungs." | ( Bolton, WK, 2010) |
"Lemierre syndrome is a potentially fatal condition after an oropharyngeal infection." | ( Aouad, R; Melkane, A; Rassi, S, 2010) |
"Stickler's syndrome is an autosomal multisystem disorder accompanying characteristic midface hypoplasia, retromicrognathia, and cleft palate." | ( Fuchibe, M; Miyata, Y; Noguchi, N; Okuno, E; Saikawa, S; Sugahara, K; Uemura, T, 2010) |
"Lennox-Gastaut syndrome is a relatively rare epilepsy syndrome that usually begins in early-mid childhood and is characterized by multiple seizure types, particularly generalized seizures, which are often resistant to antiepileptic drug medication." | ( Ferrie, CD, 2010) |
"Lemierre's syndrome is caused by acute oropharyngeal infection with septic secondary thrombophlebitis of the internal jugular vein and metastatic infection." | ( Li, L; McCluney, N; Newton, JR; Shakeel, M, 2010) |
"Stickler syndrome is an autosomal dominant disease characterized by various disorders of the eyes and the connective tissues throughout the body." | ( Kohzaki, K; Kubo, H; Okano, K; Tsuneoka, H; Watanabe, A; Watanabe, H, 2010) |
"Carotid stump syndrome is one of the recognised causes of recurrent ipsilateral cerebrovascular events after occlusion of the internal carotid artery." | ( Ettles, DF; Lakshminarayan, R; Robinson, GJ; Scott, PM, 2011) |
"Lemierre syndrome is a distinct clinical syndrome comprising oropharyngeal sepsis and fever, internal jugular vein thrombosis and remote septic metastases caused by Fusobacterium species." | ( Carr, L; Peer Mohamed, B, 2010) |
"Renal salt wasting syndrome is yet another, though it is not common." | ( Alhosaini, MN; Hamdi, T; Jallad, B; Kheir, F; Latta, S; Patel, A, 2010) |
"Glut1 deficiency syndrome is characterized by low cerebrospinal fluid (CSF) concentration of glucose with normoglycemia, infantile seizure, acquired microcephaly, developmental delay and ataxia." | ( De Vivo, DC; Fujii, T; Ho, YY; Law, PP; Morimoto, M; Wang, D; Yoshioka, H, 2011) |
"Triple-A syndrome is characterized by triad of adrenocorticotrophic hormone (ACTH)-resistant adrenal insufficiency, alacrimia and achalasia cardia." | ( Sarathi, V; Shah, NS, 2010) |
"The syndrome is frequently misdiagnosed, and patients receive redundant investigations and treatments." | ( Erturk, O; Karaali-Savrun, F; Uluduz, D, 2010) |
"Thenar hammer syndrome is a very rare condition that mimics rheumatic diseases such as carpal syndrome tunnel, Raynaud's phenomenon, and hand synovitis." | ( Bressollette, L; D'agostino, MA; Guias, B; Jousse-Joulin, S; Plat, E; Saraux, A, 2011) |
"Löfgren's syndrome is a rare variant of sarcoidosis characterized by the triad of hilar adenopathy, acute polyarthritis, and erythema nodosum." | ( Kumar, G; Kumar, N, 2010) |
"The Gorham-Stout Syndrome is a rare condition in which spontaneous, progressive resorption of bone occurs." | ( Liu, X; Ma, B; Sun, H; Sun, S; Zhou, Y, 2011) |
"Giant fornix syndrome is a chronic copiously purulent conjunctivitis seen in elderly patients with dehiscence of the levator palpebrae superioris aponeurosis." | ( Fintelmann, RE; Jeng, BH; Taylor, JB, 2011) |
""Overlap syndrome" is used to describe variant forms of autoimmune hepatitis (AIH) which present with characteristics of AIH and primary biliary cirrhosis (PBC) or primary sclerosing cholangitis (PSC)." | ( Arulprakash, S; Bala, MR; Kumar, SJ; Pugazhendhi, T; Sasi, AD, 2010) |
"Baclofen withdrawal syndrome is a rare and potentially life-threatening condition manifesting with autonomic dysreflexia, high fevers, spasticity, seizures, and multiorgan failure." | ( Kireyev, D; Poh, KK, 2010) |
"Shrinking lung syndrome is characterized by pulmonary compromise secondary to unilateral or bilateral paralysis of the diaphragm." | ( Brost, BC; DeStephano, CC; Meena, M; Watson, WJ, 2011) |
"Arachnomelia syndrome is an autosomal recessive inherited disease in cattle." | ( Buitkamp, J; Götz, KU; Semmer, J, 2011) |
"Fahr's syndrome is characterized by the presence of intracerebral, bilateral and symmetrical non-arteriosclerotic calcifications, located in the central grey nuclei." | ( Benhima, I; Khalloufi, H; Otheman, Y; Ouanass, A, 2011) |
"This syndrome is difficult to diagnose, as many of its clinical features mimic those found with other serious systemic disorders." | ( Fleming, P; Marik, PE, 2011) |
"Leukoencephalopathy syndrome is a neurologic complication after organ transplantation caused predominantly by the neurotoxic effects of immunosuppressive agents on cerebral white matter." | ( Fujiwara, T; Matsuda, H; Sadamori, H; Sato, D; Shinoura, S; Umeda, Y; Utsumi, M; Yagi, T; Yoshida, R, 2011) |
"Dravet syndrome is a highly pharmaco-resistant form of epilepsy." | ( Chiron, C, 2011) |
"Post-cardiac arrest syndrome is associated with multiple biochemical reactions which are attenuated by hypothermia." | ( Aomar Millán, M; Cortiñas Sáenz, M; Jerez Lanero, JJ; Marcote Oliva, C; Prieto Cabrera, A; Quirante Pizarro, A, 2011) |
"The Hinman's syndrome is a serious and unusual outcome of the dysfunctional elimination syndrome." | ( Limsuwan, N, 2011) |
"Hand-foot syndrome is a highly unpleasant adverse reaction caused by treatment protocols containing capecitabine (an orally administered drug), docetaxel, liposomal doxorubicin infusions or continuously infused 5-fluorouracil." | ( Bartal, A; Liszkay, G; Mátrai, Z; Szûcs, A, 2011) |
"Both syndromes are occupational diseases in workers using the hand as a hammer." | ( Bannasch, H; Kalash, Z; Koulaxouzidis, G; Stark, B; Zajonc, H, 2011) |
"Narcotic bowel syndrome is characterized by chronic or recurrent abdominal pain associated with escalating doses of narcotic pain medications." | ( Close, RJ; Grover, CA; Wiele, ED, 2012) |
"Blau syndrome is a monogenic disease resulting from mutations in nucleotide oligomerization domain 2 (NOD2) and is phenotypically characterized by granulomatous polyarthritis and uveitis." | ( Martin, TM; Rose, CD; Wouters, CH, 2011) |
"Fat embolism syndrome is characterized by the onset of respiratory, neurological, cutaneous, and hematologic manifestations and is thought to be related to intravascular embolization of fat, presumably arising from within the fractured bone marrow space." | ( Miller, P; Prahlow, JA, 2011) |
"Silent sinus syndrome is characterised by spontaneous enophthalmos and hypoglobus, in association with chronic atelectasis of the maxillary sinus, and in the absence of signs or symptoms of intrinsic sinonasal inflammatory disease." | ( Sacks, R; Sivasubramaniam, R; Thornton, M, 2011) |
"Trousseau syndrome is classically defined as migratory, heparin-sensitive but warfarin-resistant microthrombi in patients with occult, mucinous adenocarcinomas." | ( Coughlin, SR; David, T; McEver, RP; Shao, B; Varki, A; Wahrenbrock, MG; Xia, L; Yao, L, 2011) |
"In general, Tapia syndrome is combined injuries of the recurrent laryngeal nerve of the vagus and the hypoglossal nerves." | ( Ahn, R; Park, J; Weon, Y; Yang, D, 2011) |
"PHACE syndrome is a neurocutaneous disorder with large facial segmental hemangionas associated with anomalies of the brain, eye, heart and aorta." | ( Deming, D; Hopper, A; Merritt, TA; Ninnis, J; Solomon, T, 2011) |
"Hypothenar hammer syndrome is a rare condition with a peculiar presentation that aids in making a clinical diagnosis." | ( AbuRahma, AF; Campbell, JE; Mousa, AY; Nanjundappa, A; Stone, PA, 2012) |
"This syndrome is usually related to anatomic variants (involving the bone structures, fibrous bands, or muscles and tendons)." | ( Bruyère, PJ; Courtois, AC; Crielaard, JM; Douchamps, F, 2012) |
"Red man syndrome is a rare but possibly serious adverse reaction during treatment with intravenous vancomycin." | ( Bauters, T; Benoit, Y; Claus, B; Dhooge, C; Robays, H; Schelstraete, P, 2012) |
"Hypothenar hammer syndrome is an uncommon cause of upper-extremity ischemia that is often overlooked in the absence of a thorough occupational and recreational history." | ( Bartholomew, JR; Paulson, R; Swanson, KE, 2012) |
"We now show the syndrome is also associated with macrophage dysfunction, with murine G6pc3(-/-) macrophages having impairments in their respiratory burst, chemotaxis, calcium flux, and phagocytic activities." | ( Cheung, YY; Chou, JY; Jun, HS; Lee, YM; Mansfield, BC, 2012) |
"Interface fluid syndrome is an unusual complication after laser in situ keratomileusis (LASIK)." | ( Baviera-Sabater, J; Damas-Mateache, B; Llovet-Osuna, F; Martin-Reyes, C; Ortega-Usobiaga, J, 2012) |
"Fibromyalgia (FM) syndrome is a chronic condition of unknown aetiology characterised by musculoskeletal pain that often co-exists with sleep disturbance, cognitive dysfunction and fatigue." | ( Nishishinya, MB; Tort, S; Urrútia, G; Walitt, B, 2012) |
"Dapsone syndrome is a potentially fatal hypersensitivity reaction to sulphone." | ( Elizawaty, O; Norlijah, O; Thevarajah, S; Zurina, Z, 2012) |
"The MEPPC syndrome is responsive to hydroquinidine." | ( Amarouch, MY; Barc, J; Baró, I; Baron, E; Barthez, O; Bertaux, G; Béziau, DM; Charpentier, F; Charron, P; Coudière, Y; Dina, C; Faivre, L; Fressart, V; Kyndt, F; Laurent, G; Loussouarn, G; Maltret, A; Marsman, RF; Mérot, J; Probst, V; Saal, S; Schott, JJ; Thauvin-Robinet, C; Turpault, R; Villain, E; Wilde, AA; Wolf, JE, 2012) |
"Both syndromes are characterized by pharmacoresistant seizures that appear in the first weeks (up to the third month) of life, an electroencephalographic suppression-burst pattern, and a grim prognosis." | ( Fluss, J; Korff, CM; Picard, F; Vulliemoz, S, 2012) |
"The climacteric syndrome is a set of symptoms caused by the decline of ovarian hormone levels, which alters brain neurotransmission and provokes musculoskeletal pains, mood disorders, poor sleep quality and hot flushes." | ( Blümel, JE; Legorreta, D; Palacios, S; Sarra, S; Vallejo, MS, 2012) |
"Ocular ischemic syndrome is a rare condition, which is caused by ocular hypoperfusion due to stenosis or occlusion of the common or internal carotid arteries." | ( Grabska-Liberek, I; Skonieczna, K; Terelak-Borys, B, 2012) |
"Autoinflammatory syndromes are a newly understood group of conditions characterized by recurrent episodes of fever, rash, and serositis." | ( Spalding, SJ; Zeft, AS, 2012) |
"Purple glove syndrome is an uncommon but dreaded complication of intravenous phenytoin administration characterised by pain, oedema and purple-blue discolouration of the limb distal to the site of injection." | ( Garg, RK; Lalla, R; Malhotra, HS; Sahu, R, 2012) |
"Jeavons syndrome is one of the idiopathic generalized epilepsies characterized by EM with or without absence." | ( Liu, XY; Qin, J; Yang, ZX; Zhang, YH, 2012) |
"Orbital infarction syndrome is a rare but devastating disorder resulting in sudden visual loss." | ( Bilgin, LK; Kir, N; Tuncer, S; Yeniad, B, 2012) |
"The DRESS syndrome is a severe and acute hypersensitivity reaction that can be caused by a variety of drugs." | ( Bakker, RC; Segers, D; van der Mark, SC; van Wijngaarden, P, 2010) |
"Aspirin sensitivity syndrome is an underdiagnosed entity in pediatric otolaryngology." | ( Chen, BS; Manning, SC; Parikh, SR; Virant, FS, 2013) |
"Van Wyk-Grumbach syndrome is a rare disease characterized by precocious puberty associated with prolonged hypothyroidism and multicystic enlarged ovaries." | ( Kil, HR; Kim, JY; Lim, HH, 2012) |
"Hoigne's syndrome is characterized by the development of acute clinical manifestations which are mainly psycho-sensorial." | ( Bessis, D; Blard, JM; Landais, A; Marty, N; Pages, M, 2014) |
"This syndrome is characterized by nonspecific and specific manifestations of autoimmune disease." | ( Cruz-Dominguez, Mdel P; Jara, LJ; Medina, G; Shoenfeld, Y; Vera-Lastra, O, 2013) |
"Because DRESS syndrome is potentially life threatening, it is especially important to diagnose it early." | ( Adamkiewicz-Drozynska, E; Irga, N; Jaworski, R; Kosiak, W; Zielinski, J, 2013) |
"This clinical syndrome is underrecognized and underreported." | ( Feja, KN; Filina, T; Tolan, RW, 2013) |
"Laugier-Hunziker syndrome is a rare acquired disorder characterized by diffuse pigmented macules of the oral mucosa." | ( Koumaki, D; Nikitakis, NG, 2013) |
"Overlap syndromes are biochemical, serological, histological and radiological overlaps across the classic autoimmune liver diseases in the presence of autoimmun hepatitis and primary biliary cirrhosis or primary sclerosing cholangitis." | ( Hagymási, K; Tulassay, Z, 2013) |
"Retinoic acid syndrome is a novel complication of therapy with all-trans retinoic acid (ATRA) in patients with acute promyelocytic leukemia (APML)." | ( Barman, PK; Dhar, AK, 2012) |
"Gorham-Stout syndrome is a rare disorder characterized by progressive osteolysis that leads to the disappearance of bone." | ( Kitamuara, M; Maekawa, T; Miyazaki, O; Morimoto, N; Morota, N; Nakazawa, A; Nishina, S; Ogiwara, H, 2013) |
"The 5q14." | ( Akamine, S; Hara, T; Ihara, K; Ishizaki, Y; Kim, MS; Lee, KU; Lim, J; Matsushita, Y; Nakabeppu, Y; Ohkubo, K; Sakai, Y; Sanefuji, M; Shaw, CA; Torisu, H, 2013) |
"The overlap syndromes are clinical descriptions rather than pathological entities, and the dominant component of the disease determines its designation and therapy." | ( Czaja, AJ, 2013) |
"Kounis syndrome is a pan-arterial anaphylaxis -associated syndrome affecting patients of any age, involving numerous and continuously increasing causes, with broadening clinical manifestations and covering a wide spectrum of mast cell activation disorders." | ( Kounis, GN; Kounis, NG; Soufras, GD, 2014) |
"Charles Bonnet syndrome is a condition characterised by the presence of visual hallucinations in patients having visual impairment most commonly reported in the seventh decade." | ( Bokdawala, RA; Sawant, NS, 2013) |
"Ulnar hammer syndrome is an uncommon form of arterial insufficiency." | ( Cheung, K; Coroneos, CJ; Kaur, M; Thoma, A; Vartija, L, 2013) |
"Blood stasis syndrome is a common syndrome in CM." | ( Guo, H; Li, WW; Wang, XM, 2013) |
"Trapped neutrophil syndrome is an important differential diagnosis for young Border collie dogs in the UK presenting with pyrexia, neutropenia and musculoskeletal signs." | ( Batchelor, DJ; Jepson, R; Maltman, M; Mason, SL, 2014) |
"Caudal regression syndrome is a rare and sporadic congenital developmental defect of the lower spinal segments and the neural tube." | ( Altinkilic, B; Hahn, A; Hamscho, N; Steiß, JO, 2013) |
"SAHA syndrome is characterized by the tetrad: seborrhea, acne, hirsutism, and androgenetic alopecia." | ( Basios, G; Dalamaga, M; Kassanos, D; Papadavid, E; Rigopoulos, D; Trakakis, E; Vaggopoulos, V, 2013) |
"Hoigné syndrome is the most common name given to a condition which has been called in different ways." | ( Baran, R, 2014) |
"Pisa syndrome is a rare adverse drug reaction induced most often by neuroleptic medications." | ( Diefenderfer, LA; Iuppa, CA, 2013) |
"Pisa syndrome is a rare adverse drug reaction associated with neuroleptic medications." | ( Diefenderfer, LA; Iuppa, CA, 2013) |
"This syndrome is diagnosed based on clinical symptoms and endoscopic and histological findings, but SRUS often goes unrecognized or is easily confused with other diseases such as inflammatory bowel disease, amoebiasis, malignancy, and other causes of rectal bleeding such as a juvenile polyps." | ( Eken, KG; Kalyoncu, D; Urgancı, N, 2013) |
"Diencephalic syndrome is a rare condition associated with central nervous system tumors." | ( Clemente, M; Gallego, S; Gros, L; Lorite, R; Sanchez de Toledo, J; Velasco, P; Ventura, MC, 2014) |
"Mauriac syndrome is characterised by growth failure, cushingoid appearance and hepatomegaly which occurs in patients with insulin dependent diabetes and was first described shortly after the introduction of insulin as a treatment for the condition." | ( Cotoi, C; Fitzpatrick, E; Ford-Adams, ME; Hadzic, N; Quaglia, A; Sakellariou, S, 2014) |
"Hopkins syndrome is a rare cause of poliomyelitis-like paralysis affecting 1 or more extremities after an acute attack of asthma." | ( Doi, K; Hattori, Y; Sakamoto, S; Satbhai, NG, 2014) |
"Clinically this syndrome is a diagnostic challenge because hypothyroidism usually leads to pubertal and growth delay, whereas in case of VWGS hypothyroidism it leads to growth delay and precocious puberty." | ( Bullens, D; Casteels, K; Christens, A; Sevenants, L; Toelen, J, 2014) |
"Baboon syndrome is a drug- or contact allergen-related maculopapular eruption that typically involves the flexural and gluteal areas." | ( Aliagaoglu, C; Başkan, E; Gulec, AI; Uslu, E; Yavuzcan, G, 2014) |
"This syndrome is usually related to a cardiac right-left shunt, and rarely to a pulmonary shunt." | ( Bosc, C; Chidlovskii, E; Couturier, P; Deroux, A; Pison, C, 2014) |
"MEDNIK syndrome is caused by mutation of the AP1S1 gene, which codes for the σ1A subunit of adaptor protein complex 1, and directs intracellular trafficking of copper pumps ATP7A and ATP7B." | ( Dionisi-Vici, C; Martinelli, D, 2014) |
"The syndrome is caused by a toxic concentration of olanzapine, and is possibly the result of the direct injection of the substance in the bloodstream." | ( Buts, K; Van Hecke, J, 2014) |
"Postpneumonectomy syndrome is a rare complication following pneumonectomy with its related change in mediastinal configuration." | ( Bulstrode, N; Elliott, MJ; Muthialu, N, 2015) |
"TAFRO syndrome is a unique clinicopathologic variant of multicentric Castleman's disease that has recently been identified in Japan." | ( Hayakawa, A; Hirase, S; Iijima, K; Kageyama, G; Kojima, M; Kubokawa, I; Kyo, E; Mori, T; Nagai, H; Takeshima, Y; Uehara, K; Yachie, A; Yamamoto, N; Yanai, T, 2014) |
"Löfgren's syndrome is an acute and usually self-remitting phenotype of sarcoidosis." | ( Grutters, JC; Huizinga, TW; Karakaya, B; Ruven, HJ; van der Helm-van Mil, AH; van der Vis, JJ; van Moorsel, CH, 2014) |
"Fat embolism syndrome is a life-threatening condition with treatment centering on the provision of excellent supportive care and early fracture fixation." | ( Khot, SP; Standage, SW; Whalen, LD, 2014) |
"Purple glove syndrome is a rare and poorly understood complication of phenytoin use, occurring almost always with its intravenous formulation." | ( Handa, R; Jain, RS; Kumar, S; Nagpal, K; Prakash, S, 2015) |
"The Popeye syndrome is one of the possible complications of this misuse." | ( Békaert, J; Podevin, G, 2015) |
"Silent sinus syndrome is characterized by an asymptomatic hypoplastic maxillary sinus with progressive enophthalmos and hypoglobus." | ( Chang, DT; Truong, MT, 2014) |
"Because this rare syndrome is frequently misdiagnosed, nuclear physicians should be aware of the signs and symptoms of this condition, which may call for the use of PET/CT imagery." | ( Massonnat, R; Merino, B; Monet, A; Richez, C; Riviere, A, 2014) |
"Restless genital syndrome is a rare disorder that can be a source of distress and disability." | ( Aquino, CC; Lang, AE; Mestre, T, 2014) |
"Hypothenar hammer syndrome is a rare vascular condition resulting from injury to the ulnar artery at the level of Guyon canal." | ( Hui-Chou, HG; McClinton, MA, 2015) |
"Differentiation syndrome is a life-threatening complication of therapy that is carried out with agents used for acute promyelocytic leukemia." | ( Chelazzi, C; De Gaudio, AR; Ronco, C; Sharma, A; Villa, G; Zaragoza, JJ, 2014) |
"The phantom eye syndrome is defined as any sensation reported by the patient with anophthalmia, originated anophthalmic cavity." | ( Andreotti, AM; dos Santos, DM; Gennari-Filho, H; Goiato, MC; Guiotti, AM; Pellizzer, EP; Pesqueira, AA, 2014) |
"A similar syndrome is seen in human motor neurone disease, but not in equine motor neurone disease, and this is consistent with it being an upper, not a lower, motor neurone effect." | ( Bourke, C, 2015) |
"Van Wyk-Grumbach syndrome is a rare complication of prolonged untreated primary hypothyroidism characterized by precocious puberty and enlarged multicystic ovaries." | ( Bhagwat, NM; Dalwadi, PP; Joshi, AS; Pawal, PS; Varthakavi, PK, 2015) |
"The "silent sinus syndrome" is a rare entity that was first described in 1964 and given this name 30 years later." | ( Dumitrescu, CI; Dumitrescu, D; FănuŢă, B; Fronie, AI; MârŢu, MC; Popescu, M; Stepan, AE; Şurlin, P; Şurlin, V, 2015) |
"Silent sinus syndrome is a well-defined clinical entity with characteristic imagistic findings." | ( Dumitrescu, CI; Dumitrescu, D; FănuŢă, B; Fronie, AI; MârŢu, MC; Popescu, M; Stepan, AE; Şurlin, P; Şurlin, V, 2015) |
"This syndrome is a disease usually seen in male smokers." | ( Özçelik, N; Özsu, S, 2015) |
"TEMPI syndrome is a recently described condition defined by teleangiectasias, elevated erythropoietin and erythrocytosis, monoclonal gammopathy, perinephric fluid collections, and intrapulmonary shunting." | ( Belizaire, R; Chen, YB; Makar, RS; Spitzer, TR; Sykes, DB, 2015) |
"The syndrome is related to a genetic cause, in the classic primary form, or to identified triggers such as infections, malignancy or rheumatological processes, in the classic secondary form." | ( Dias, A; Figueiredo, A; Nunes, P; Serrão, T, 2015) |
"Hypothenar hammer syndrome is a rare vascular lesion of the distal ulnar artery in Guyon tunnel caused by acute or repetitive blunt trauma to the hypothenar eminence." | ( Hacker, S; Karle, B; Kitzinger, HB; Schmitt, R; van Schoonhoven, J, 2016) |
"Kounis syndrome is hypersensitivity coronary disorder induced by various types of environmental exposures, drugs, conditions and stents." | ( Giannopoulos, S; Goudevenos, J; Kounis, GN; Kounis, NG; Soufras, GD, 2015) |
"Kounis syndrome is the concurrence of acute coronary syndrome with allergic reactions, such as anaphylaxis or anaphylactoid reactions." | ( Bin, H; Liping, Z; Qiming, F, 2015) |
"KBG syndrome is a condition characterised by macrodontia, neurological disturbance, short stature, a distinct cranio-facial appearance, and skeletal anomalies." | ( Alam, M; Hafiz, A; Ismael, M; Mufeed, A, 2015) |
"Hoffmann's syndrome is a hypothyroid myopathy presenting as muscle stiffness and hypertrophy." | ( Ahn, KS; Chung, J; Hong, SJ; Kang, CH; Kim, BH, 2015) |
"Kounis syndrome is a well-described clinical condition characterized by the simultaneous occurrence of chest pain and an allergic reaction accompanied by clinical and laboratory findings of angina caused by inflammatory mediators released during an allergic insult." | ( Ihdayhid, AR; Rankin, J, 2015) |
"Haddad syndrome is CCHS with Hirschsprung's disease." | ( El-Metwally, D; Greene, C; Jaiyeola, P; Viscardi, R; Woo, H, 2015) |
"Cytarabine syndrome is a rare clinical condition characterized by fever, malaise, myalgia, arthralgia, and/or rash that occurs after receipt of cytarabine." | ( Herrington, JD; Jirasek, MA, 2016) |
"Baboon syndrome is a distinctive skin reaction in which the patient typically develops erythematous buttocks that appear similar to those of a baboon." | ( Cohen, PR, 2015) |
"Ocular ischaemic syndrome is a progressive and serious vision-threatening condition that is usually associated with carotid artery disease, and poor effective therapeutic options are available." | ( Branco, G; Costa, JM; Isidro, F; Reizinho, C, 2015) |
"Achenbach's syndrome is a female-dominant disease with median age of 49." | ( Caine, PL; Jonas, A; Kordzadeh, A; Panayiotopolous, YP; Rhodes, KM, 2016) |
"Sinus tarsi syndrome is a pain in the lateral side of the hind foot that is responsive to injection of local anesthetic agents." | ( Abu Al Huda, F; Al Kandari, F; Usmani, S, 2016) |
"Erasmus syndrome is defined as the association of silica exposure and subsequent development of systemic sclerosis." | ( Bello, S; Bonali, C; Lapadula, G; Rinaldi, A; Serafino, L; Trabucco, S, 2015) |
"Catatonic syndrome is a serious condition; morbidity and mortality are mainly influenced by disease duration and early initiation of appropriate treatment." | ( Brakman, M; de Graaff, PJ; Visser, EC, 2016) |
"The severity of syndrome is aggravated with increased BNP and cardiac functional grade." | ( Cao, XB; He, JC; Huang, PX; Li, XQ, 2016) |
"PFAPA syndrome is the most frequent periodic fever syndrome in non-Mediterranean patients." | ( Dusser, P; Hentgen, V; Koné-Paut, I; Neven, B, 2016) |
"Red scrotum syndrome is a poorly understood, chronic dysesthetic erythema primarily involving the anterior scrotum." | ( Leicht, S; Miller, J, 2016) |
"Overlap syndromes are known to occur with connective-tissue diseases (CTDs)." | ( Fazel, N; Lynch, PJ; Pascucci, A, 2016) |
"Huppke -Brendel syndrome is a new addition to the evolving spectrum of copper metabolism defects." | ( Arvinda, HR; Bharath, MM; Bindu, PS; Bineesh, C; Chiplunkar, S; Gayathri, N; Govindaraj, P; Mathuranath, PS; Nagappa, M; Sinha, S; Taly, AB, 2016) |
"The syndrome is characterized by normal development followed by a sudden, rapid hyperphagic weight gain beginning during the preschool period, hypothalamic dysfunction, and central hypoventilation, and is often accompanied by personality changes and developmental regression, leading to substantial morbidity and mortality." | ( Chen, AR; Jacobson, LA; McReynolds, LJ; Paz-Priel, I; Rane, S; Steppan, DA, 2016) |
"Low T3 syndrome is a common complication in patients suffering from intracranial neurosurgical disorders and is associated with greater disease severity, complicated clinical course, and greater mortality and handicap rates." | ( Bunevicius, A; Laws, ER; Smith, T, 2016) |
"The numb chin syndrome is a rare manifestation of intractable pain in the palliative care setting and represents a major therapeutic challenge." | ( Bardelli, D; Fusi-Schmidhauser, T, 2016) |
"Kranenburg's syndrome is defined as central serous detachment associated with an optic disc pit." | ( Feltgen, N; Hoerauf, H; Storch, M, 2017) |
"TAFRO syndrome is characterized by a constellation of symptoms: Thrombocytopenia, Anasarca, Fever, Reticulin fibrosis and Organomegaly." | ( Fujikawa, K; Harada, K; Ito, M; Iwanaga, N; Izumi, Y; Kawahara, C; Kawakami, A; Kurohama, K; Migita, K; Tsuji, Y; Yoshida, S, 2016) |
"Cronkhite-Canada syndrome is an acquired inflammatory polyposis syndrome in which alopecia, onychomadesis and hyperpigmentation occur concurrently with gastrointestinal symptoms." | ( Carton, J; Grabczynska, S; Kubba, F; Ong, S; Osborn, M; Rodriguez-Garcia, C; Stefanato, CM; Walters, J, 2017) |
"This syndrome is absent in the family we present." | ( Güven, A; Hölttä-Vuori, M; Ikonen, E; Kanerva, K; Kara, B; Köroğlu, Ç; Kotil, T; Laiho, M; Maraş Genç, H; Olkkonen, VM; Peltonen, K; Solakoğlu, S; Steinberg, RC; Tolun, A; Zhou, Y, 2017) |
"This rare syndrome is easy to be misdiagnosed as pituitary and ovarian tumor." | ( Jin, P; Mo, Z; Xie, Y; Yang, F; Zhang, Q, 2016) |
"Wunderlich syndrome is a rare clinical entity characterised by spontaneous renal haemorrhage that can be life-threatening and requires emergency attention." | ( Beirão, P; Coelho, ML; Pereira, P; Teixeira, L, 2017) |
"Silent Sinus Syndrome is defined as a painless spontaneous and progressive enophthalmos and hypoglobus with maxillary sinus hypoplasia and orbital floor resorption." | ( Carnevali, G; Clauser, LC; Malagutti, N; Tieghi, R; Valente, L, 2017) |
"Narcotic bowel syndrome is characterised by worsening abdominal pain in the context of escalating or continuous opioid therapy." | ( Aziz, Q; Bruckner-Holt, C; Farmer, AD; Gallagher, J, 2017) |
"Silent sinus syndrome is an unusual cause of progressive enophthalmos and hypoglobus due to atelectasia of the maxillary sinus associated with osteolysis of the orbital floor." | ( Castillo, L; Février, E; Savoldelli, C; Vandersteen, C, 2017) |
"If a certain fetal syndrome is suspected, the fetal eyes should be removed and submitted for ophthalmic pathological investigation in a specialized center." | ( Herwig-Carl, MC; Loeffler, KU; Müller, AM, 2017) |
"SMART syndrome is a delayed complication of brain radiation characterized by neurologic symptoms including migraine-like headaches, seizures, and hemispheric impairment." | ( Altmeyer, WB; Moise, AM; Singh, AK; Tantiwongkosi, B, 2017) |
"Pendred syndrome is an autosomal recessive disorder that is classically defined by the combination of sensorineural deafness/hearing impairment, goiter, and an abnormal organification of iodide with or without hypothyroidism." | ( Kopp, P; Wémeau, JL, 2017) |
"Visual snow syndrome is a cluster of symptoms found highly prevalent in patients that present with visual snow." | ( Renze, M, 2017) |
"TAFRO syndrome is a rare systemic inflammatory disease characterized by thrombocytopenia, pleural effusion, fever, renal dysfunction, reticulin fibrosis of the bone marrow, and organomegaly." | ( Abe, R; Kikuchi, T; Okamoto, S; Shimizu, T; Toyama, T, 2017) |
"Orbital apex syndrome is rare, but can occur as a consequence of trauma from fracture of the medial orbit." | ( Ahmed, A, 2017) |
"The syndrome is due to pathogenic variants on either ACTB or ACTG1 genes (Di Donato et al." | ( Daroca, J; Gomez, R; Lacassie, Y; Leon, A; Rall, N, 2018) |
"Diogenes syndrome is a chronic condition often affecting elderly people, especially those living in isolation." | ( Bertrand, A; Carlier-Verhaeghe, C; Caudron, E; Closier, S; Kerrien, A; Lafon, É; Patry, C, 2017) |
"Urrets-Zavalia syndrome is an uncommon complication of the deep anterior lamellar keratoplasty in keratoconus." | ( Jovanović, V; Nikolić, L, 2016) |
"BAIT syndrome is a new clinical condition characterised by severe transillumination of the iris, acute onset of pigment dispersion in the anterior chamber, and a medial mydriatic pupil that is unresponsive or poorly responsive to light, due to a sphincter paralysis." | ( Fanlo, P; Heras-Mulero, H; Plaza-Ramos, P; Zubicoa, A, 2018) |
"PRKAG2 cardiac syndrome is a distinct form of human cardiomyopathy characterized by cardiac hypertrophy, ventricular pre-excitation and progressive cardiac conduction disorder." | ( Cai, H; Chen, S; Ge, J; Huang, G; Li, B; Liang, Q; Lu, C; Qian, R; Sheng, W; Sun, A; Sun, N; Sun, X; Xu, C; Yin, L; Zhan, Y, 2018) |
"The Fernand Widal syndrome is a set of associations between asthma, nasal polyposis and aspirin sensitivity." | ( De Blay, F; Guenard-Bilbaut, L; Metz-Favre, C; Schaller, A, 2018) |
"Middle-aortic syndrome is a surgically curable cause of childhood hypertension." | ( Benjamin Leong, DK; Hong Ong, G, 2018) |
"Acute inflammatory syndrome is an extremely rare complication triggered by preoperative immunosuppression therapy." | ( Araki, M; Kobayashi, Y; Maruyama, Y; Mitsui, Y; Nasu, Y; Nishimura, S; Sadahira, T; Tanimoto, R; Wada, K; Watanabe, T, 2018) |
"The Rapunzel syndrome is a rare entity that may be complicated by life-threatening events." | ( Bensi, G; Biasucci, G; Cannalire, G; Capelli, P; Cella, A; Celoni, M; Conti, L; Grassi, C, 2018) |
"Cholinergic syndrome is an acute adverse reaction associated with irinotecan." | ( Hosokawa, T; Ishikawa, T; Kanazawa, M; Kanbayashi, Y; Kawano, R; Nakajima, Y; Tabuchi, Y; Taguchi, T; Takayama, K; Yoshida, N; Yoshioka, T, 2018) |
"Periodic fever syndromes are autoinflammatory diseases." | ( Lachmann, HJ, 2017) |
"TAFRO syndrome is a systemic inflammatory disorder characterized by thrombocytopenia, anasarca, fever, reticulin fibrosis, renal dysfunction, and organomegaly." | ( Morinobu, A; Onishi, A; Saegusa, J; Shirai, T; Waki, D, 2018) |
"Growing teratoma syndrome is an uncommon complication of malignant germ cell cancer, characterised by the development of large tumours during or after chemotherapy, despite normalisation of tumour marker levels and metastasis, which contain only mature teratoma." | ( Cuadra, M; Lapuente-Ocamica, O; Lete, I; Lopez-Picado, A; Maestro, L; Ugarte, L, 2016) |
"Wellens' syndrome is an electrocardiographic pattern of T-wave changes associated with critical stenosis of the proximal left anterior descending artery, signifying imminent risk of an anterior-wall myocardial infarction." | ( Ali, NS; Figueredo, VM; Inayat, F; Riaz, I, 2018) |
"Orbital apex syndrome is a complex clinical disorder featuring a collection of cranial nerve deficits characterized by impairment of the extraocular muscles, the ophthalmic branch of the trigeminal nerve, and even the optic nerve." | ( Chang, YH; Chang, YM; Chen, YJ; Chien, KH; Liang, CM; Nieh, S; Tai, MC, 2018) |
"Belly dancer syndrome is a rare condition consisting of involuntary, repetitive, often rhythmic contractions of the diaphragm, causing undulating movements of the abdomen that recall those of a belly dancer." | ( Dell'Omo, F; Galizia, P; Ossella, C; Pestalozza, IF; Tripodi, S; Zanetti, E, 2021) |
"Belly dancer syndrome is a rare condition often misdiagnosed owing to multiple presentations." | ( Dell'Omo, F; Galizia, P; Ossella, C; Pestalozza, IF; Tripodi, S; Zanetti, E, 2021) |
"MEDNIK syndrome is an autosomal recessive rare disease as one of the most recently described copper metabolism disorder characterized by intellectual disability, ichthyosis, hearing loss, peripheral neuropathy, enteropathy and keratodermia." | ( Bisgin, A; Incecik, F; Yılmaz, M, 2018) |
"Cholinergic syndrome is an acute adverse event frequently observed in patients administered irinotecan, and can sometimes negatively affect their quality of life." | ( Fujita, KI; Ishida, H; Iwai, S; Kamei, D; Kubota, Y; Sasaki, Y; Taki-Takemoto, I; Tsuboya, A, 2019) |
"Wellens' syndrome is described as characteristic biphasic or symmetrical T-wave inversion with normal precordial R-wave progression and the absence of Q waves in the right precordial leads." | ( Basnyat, S; Bhattacharya, PT; Sedhai, YR, 2018) |
"Bing-Neel syndrome is a rare complication of Waldenström macroglobulinemia, characterized by infiltration of lymphoplasmacytic cells to the central nervous system." | ( Arnall, JR; Hartsell, L; Janes, A; Larck, C; Park, S, 2019) |
"TCM syndromes are judged by traditional four-diagnosis method, which is subjective and fuzzy." | ( Chen, J; Hu, X; Huang, C; Li, P; Lin, D; Wu, A; Xue, X; Yang, H; Yang, Z; Ye, C, 2019) |
"Twenty-and-a-half syndrome is reported for the first time." | ( Chouksey, D; Dani, R; Dube, M; Dubey, A, 2019) |
"Insulin autoimmune syndrome is a rare cause of hyperinsulinemic hypoglycemia characterized by autoantibodies to human insulin without previous insulin use." | ( Amano, H; Kawaguchi, Y; Kobayashi, S; Yokoo, T, 2019) |
"Ocular ischemia syndrome is caused by ocular chronic hypoperfusion due to stenosis or occlusion of the ipsilateral common or internal carotid artery." | ( Esteban Floria, MO; Nuñez Benito, ME; Sanabria Sanchinel, AA; Tejero Juste, C, 2019) |
"This syndrome is caused by loss of function mutations and malfunction of the immunoproteasome complex." | ( Aksentijevich, I; Boyadzhiev, M; Boyadzhiev, V; Hambleton, S; Iotova, V; Marinov, L, 2019) |
"Froin syndrome is characterized by xanthochromia and hypercoagulability of the cerebrospinal fluid (CSF) due to elevated protein levels." | ( Decramer, T; Kiekens, C; Theys, T; Wouters, A, 2019) |
"Post-embolization syndrome is a common complication after transarterial chemoembolization (TACE) for hepatocellular carcinoma (HCC)." | ( Bhanthumkomol, P; Chonprasertsuk, S; Kaewmanee, M; Phumyen, A; Pornthisarn, B; Punjachaipornpon, T; Siramolpiwat, S; Tangaroonsanti, A; Vilaichone, RK; Yasiri, A, 2019) |
"Crowned dens syndrome is accompanied by fever in addition to acute and intense neck, posterior head, and temporal pain; thus, distinguishing crowned dens syndrome may be difficult in the presence of odontogenic infection." | ( Asoda, S; Kawana, H; Kimura, M; Miyashita, H; Munakata, K; Nakagawa, T; Soma, T, 2019) |
"KILT syndrome is a rare but underrecognized condition." | ( Bütikofer, A; Eigenheer, S; Escher, R; Lauener, S, 2019) |
"FOXG1 syndrome is a severe encephalopathy that exhibit intellectual disability, emotional disorder, and limited social communication." | ( Chen, D; Chen, H; Li, M; She, X; Wang, C; Yuan, Y; Zhang, W; Zhao, C, 2019) |
"This traumatic syndrome is a combination of features seen in both superior orbital fissure syndrome and traumatic orbital neuropathy due to nerve impingement." | ( Lighthall, JG; Shokri, T; Zacharia, BE, 2019) |
"Ascher syndrome is a disease that is characterized by upper eyelid edema, double lip, and swelling in the thyroid glands whose etiology is unknown, and it is usually seen in young people over the age of 20." | ( Izol, BS; Uner, DD, 2019) |
"The COPA syndrome is a newly recognized monogenic, autosomal dominant autoimmune disease presenting mostly presenting in childhood." | ( Patwardhan, A; Spencer, CH, 2019) |
"Ocular ischemic syndrome is not a common condition so most of these cases are often misdiagnosed or treated as a different entity." | ( Benjankar, M; Karki, P; Sitaula, S, 2019) |
"Limy bile syndrome is a rare entity in which there is an excessive precipitation of calcium salts, mainly calcium carbonate in the gallbladder (GB) and to a rare extent in the common bile duct (CBD), making it radiopaque in plain radiographs." | ( Abouleid, A; AlMuhsin, AM; Altaweel, A, 2019) |
"Proteus syndrome is an overgrowth syndrome caused by a somatic activating mutation in AKT1." | ( Arias-Santiago, S; Martinez-Lopez, A; Molina-Leyva, A; Montero-Vilchez, T; Salvador-Rodriguez, L; Tercedor-Sanchez, J, 2019) |
"Good syndrome is the association of thymoma with combined B cell and T cell immunodeficiency." | ( Chang, T; De Silva, R; Handagala, S; Paranavitane, S, 2019) |
"Olmsted syndrome is a rare and disabling genodermatosis for which no successful treatment is currently available." | ( Diab, Y; Diamond, C; Duchatelet, S; Hill, I; Hovnanian, A; Kirkorian, AY; Lakdawala, N; Marathe, K; Richard, G; Siegel, DH; Tower, RL; Watanabe, F; Zhang, A, 2020) |
"Olmsted syndrome is a genodermatosis characterized by painful and mutilating palmoplantar keratoderma (PPK) that progresses from infancy onward and lacks an effective treatment." | ( Bodemer, C; Boucheix, C; Chaumon, S; Doz, F; Greco, C; Hadj-Rabia, S; Leclerc-Mercier, S; Molina, T, 2020) |
"Purple urine bag syndrome is a potentially alarming phenomenon caused by bacterial metabolism of urinary tryptophan into indigo (blue) and indirubin (red) pigments." | ( Brewer, CF; Khan, T; Murch, N; Sadler, C, 2019) |
"The TEMPI syndrome is a rare and acquired disorder characterized by 5 salient features, which compose its name: (1) telangiectasias; (2) elevated erythropoietin and erythrocytosis; (3) monoclonal gammopathy; (4) perinephric fluid collections; and (5) intrapulmonary shunting." | ( O'Connell, C; Schroyens, W; Sykes, DB, 2020) |
"Rapunzel syndrome is a rare case of bowel obstruction resulting from hair ingestion (Trichobezoar)." | ( Armao, FT; Bisagni, P; Caruso, A; Gendarini, A; Giacchero, R; Leoni, P; Luraghi, M; Romano, S; Scagnelli, P; Tripodi, V, 2020) |
"Pisa syndrome is usually seen in patients with Alzheimer's disease treated with a cholinesterase inhibitor, dementia with Lewy bodies, Parkinson's disease, or atypical parkinsonism including multiple system atrophy." | ( Ando, M; Hattori, A; Hattori, N; Jo, T; Noda, K; Ogaki, K; Okuma, Y; Sugiyama, M, 2020) |
"Red scrotum syndrome is an infrequently reported dermatosis characterized by scrotal erythema accompanied by burning, pain, or dysesthesia." | ( Cardenas-de la Garza, JA; Martinez, JD; Soria Orozco, M, 2022) |
"The human DPH1 syndrome is an autosomal recessive disorder associated with developmental delay, abnormal head circumference (microcephaly or macrocephaly), short stature, and congenital heart disease." | ( Brinkmann, U; Hawer, H; Kung, A; Malhotra, A; Mayer, K; Mendelsohn, BA; Schaffrath, R; Schleit, J; Tuupanen, S, 2020) |
"Puffy hand syndrome is a rare complication of intravenous drug addiction." | ( Chantalat, L; Fourgeaud, C; Simon, M; Vignes, S, 2020) |
"Despite to PFAPA syndrome is considered a benign and self-limited condition in childhood its impact on patients and families can be remarkable in many cases." | ( Barone, P; Filosco, F; Finocchiaro, GG; Giugno, A; Leonardi, S; Manti, S; Papale, M; Parisi, GF, 2020) |
"This syndrome is characterised by recurrent episodes of hypoglycaemia and elevated ammonia levels, which are potentially harmful to both the patient and a developing fetus." | ( Bazelmans, M; Benner, BJM; Huidekoper, H; Langendonk, J; Langeveld, M; Schoenmakers, S, 2020) |
"Löfgren's syndrome is a subset within the spectrum of sarcoidosis phenotypes, composed of acute onset of fever, bilateral hilar lymphadenopathy, erythema nodosum and/or bilateral ankle periarticular inflammation/arthritis, specifically characterized by a self-limiting disease course." | ( Castro, MDC; Pereira, CAC, 2020) |
"MIRAGE syndrome is a recently discovered rare genetic disease characterized by myelodysplasia (M), infection (I), growth restriction (R), adrenal hypoplasia (A), genital phenotypes (G), and enteropathy (E), caused by a gain-of-function mutation in the SAMD9 gene." | ( Ishikura, K; Ishiwa, S; Kamei, K; Matsunami, K; Narumi, S; Sato, M; Shibata, S; Takeuchi, I; Tanase-Nakao, K, 2020) |
"MOSH syndrome is characterized by the presence of obesity associated with the alteration of sexual and metabolic functions." | ( De Lorenzo, A; Di Daniele, F; Di Daniele, N; Di Lauro, M; Marrone, G; Noce, A; Pietroboni Zaitseva, A; Wilson Jones, G, 2020) |
"White-nose syndrome is a fungal disease responsible for the rapid decline of North American bat populations." | ( Cohen, AI; Hare, PM; Hartman, CJ; Mester, JC, 2020) |
"Growing teratoma syndrome is defined as an increase in tumor size during or after systemic chemotherapy for germ cell tumors." | ( Noda, T; Oyama, T; Shimada, A; Washio, K, 2020) |
"Rowell's syndrome is a rare disorder characterised by an association of lupus erythematosus with erythema multiforme (EM)-like skin lesions." | ( Chandra, A; Karmakar, P; Ray, AK; Saha, SK, 2020) |
"Chronic pain syndromes are clinically challenging to treat, and management with opioid medications is increasingly shown to be inappropriate and ineffective." | ( Abd-Elsayed, A; Deer, T; Joshi, M; Karri, J; Lee, M; Orhurhu, V; Polson, G; Tang, T, 2020) |
"Traboulsi syndrome is a rare autosomal recessive genetic disorder." | ( Kaur, I; Senthil, S; Sharma, S; Vishwakarma, S, 2021) |
"Baboon syndrome is a rare, type IV hypersensitivity reaction causing a maculopapular rash." | ( Ghasemi, M; Ghobadiaski, S; Hashemi, N; Jahani Amiri, K; Jallab, N; Kränke, B; Mofarrah, R; Rahmani, M; Rahmani, N, 2021) |
"PURA syndrome is rare autosomal dominant condition characterized by moderate to severe neurodevelopmental delay with absence of speech in nearly all patients and lack of independent ambulation in many." | ( Ciaccio, C; Cinquina, V; Colombi, M; Masson, R; Ritelli, M; Venturini, M, 2021) |
"Elsberg syndrome is a rare cause of lumbosacral radiculitis with concomitant thoracic and lumbosacral myelitis that can be seen after an acute or reactivated viral infection." | ( Abrams, RMC; Desland, F; Lehrer, H; Mendu, DR; Shin, SC; Tse, W; Vickrey, BG; Yeung, A; Young, JJ, 2021) |
"Schaaf-Yang syndrome is a genetic disorder caused by mutations in the paternal allele of the MAGEL2 gene." | ( Cohen, M; Ekhilevitch, N; Habib, C; Halloun, R; Tiosano, D; Weiss, R, 2021) |
"Lofgren's syndrome is an uncommon initial presentation of sarcoidosis which is recognised by the classical triad of acute arthritis, erythema nodosum and bilateral hilar lymphadenopathy." | ( Chauhan, A; Jandial, A; Mishra, K; Sandal, R, 2021) |
"PURA syndrome is a distinct form of developmental encephalopathy, characterized by early-onset hypotonia, severe developmental delay, intellectual disability, epilepsy and respiratory and gastrointestinal disorders." | ( Bernardina, BD; Cantalupo, G; Fiorini, E; Guerrini, R; Nardocci, N; Parrini, E; Solazzi, R, 2021) |
"Pisa syndrome is a movement problem defined by tonic, sustained lateral flexion with a slight posterior rotation of the trunk." | ( Erdem, NŞ; Özkaynak, SS, 2021) |
"Lipodystrophy syndromes are rare complex multisystem disorders caused by generalized or partial lack of adipose tissue." | ( Akinci, B; Akinci, G; Celik, M, 2021) |
"Overlap syndrome is a condition in which patients have features of both AIH and PBC." | ( Hoashi, T; Kanda, N; Okazaki, S; Saeki, H, 2021) |
"Craniodigital syndrome is a recently described disorder also related to CSNK2B, with a single report in the literature." | ( Doriqui, MJR; Kok, F; Oliveira, BM; Pereira, A; Souza, CFM; Wilke, MVMB, 2022) |
"Lipodystrophy syndromes are rare diseases originating from a generalized or partial loss of adipose tissue." | ( Auclair, M; Bismuth, E; Capel, E; Donadille, B; Fève, B; Janmaat, S; Jéru, I; Mosbah, H; Storey-London, C; Vatier, C; Vigouroux, C; Zammouri, J, 2021) |
"CLOVES syndrome is a rare congenital overgrowth disorder caused by mutations in the phosphatidylinositol 3-kinase catalytic subunit alpha (PIK3CA) gene." | ( Garreta Fontelles, G; Grande Moreillo, C; Pardo Pastor, J, 2022) |
"Patients with WHIM syndrome are more susceptible to human papillomavirus (HPV) infections and commonly present to a dermatologist with recalcitrant to treatment warts." | ( Ben-Shoshan, M; Jfri, A; Litvinov, IV; Merati, N; Popradi, G; Sivachandran, S; Vinh, DC, 2022) |
"Mucus fishing syndrome is a chronic inflammatory ocular surface condition characterised by repetitive self-extraction of mucous strands from the eye." | ( Au Eong, DTM; Au Eong, KG; Chiew, RLJ, 2022) |
"Lance Adams syndrome is a chronic post-hypoxic myoclonus." | ( Chan, AHW; Nichols, J; Ryan, SL; Tse, W, 2022) |
"Erasmus syndrome is the association of the exposure to silica and the subsequent development of systemic sclerosis, a rare occurrence, with scarce data in medical literature, which can be attributed to little knowledge of the syndrome and underdiagnosis." | ( Chaparro-Mutiz, P; Osejo-Betancourt, M, 2022) |
"Rubber band syndrome is a condition that usually affects children because of wearing a rubber band on the wrist or the ankle." | ( Dadaci, M; Kendir, MS; Uyar, I; Yildirim, MEC, 2022) |
"BACKGROUND Erasmus syndrome is a rare disease entity characterized by the development of systemic sclerosis (SSc) in a background of silica exposure or silicosis." | ( Amante, EJB; Atienza, MA; Gonzales, JRM; Lomanta, JMJ; Lucero-Orillaza, H; Santiaguel, JM; Urquiza, SC, 2022) |
"Locomotive syndrome is an unsatisfactory condition of patients over 60 years of age who need or may require outside help in the near future due to functional deterioration of the musculoskeletal system, including pathology of bone tissue, joints, muscles and nervous tissue." | ( Lila, AM; Putilina, MV; Teplova, NV; Zagorodniy, NV, 2021) |
"Overlap syndrome is the combination of autoimmune liver diseases, and this term usually describes the coexistence of autoimmune hepatitis (AIH) and primary biliary cirrhosis (PBC) in the same patient." | ( Chen, H; Gao, X; Hong, X; Hu, S; Jin, X; Qiao, Z; Xia, C; Xiang, X; Xu, Y; Zhang, P, 2023) |
"Alpha-gal syndrome is an IgE-mediated allergy characterized by delayed reactions after eating mammalian meat or mammalian-derived products that contain galactose-alpha-1,3-galactose (alpha-gal)." | ( Lee, CJ; McGill, SK, 2023) |
"Thalassemia syndromes are common monogenic disorders and represent a significant health issue worldwide." | ( Bauer, DE; Tesio, N, 2023) |
"The auto brewery syndrome is a rare disorder of dysbiosis leading to a disturbed gut-brain axis." | ( Çalıkuşu, FZ; Destanoğlu, O; Erener, N; Kıykım, E; Ser, MH; Siva, A, 2023) |
"Cyclops syndrome is a subtype involving localized scar anterior to the graft, which is typically treated with arthroscopic debridement." | ( Arner, JW, 2023) |
"Fibromyalgia syndrome is classified as a functional somatic syndrome." | ( Langhorst, A; Langhorst, J, 2023) |
"SHINE syndrome is a rare neurodevelopmental disorder caused by dysfunction of the postsynaptic density protein-95 (PSD-95), encoded by the DLG4 gene." | ( Grebe, T; Ritfeld, G; Rubin, A; Wondimu, R; Yang, M, 2023) |