2-propanol has been researched along with Abnormalities, Multiple in 300 studies
2-Propanol: An isomer of 1-PROPANOL. It is a colorless liquid having disinfectant properties. It is used in the manufacture of acetone and its derivatives and as a solvent. Topically, it is used as an antiseptic.
propan-2-ol : A secondary alcohol that is propane in which one of the hydrogens attached to the central carbon is substituted by a hydroxy group.
Abnormalities, Multiple: Congenital abnormalities that affect more than one organ or body structure.
| Excerpt | Relevance | Reference |
|---|---|---|
| "We report a 5 1/2-year-old girl whose clinical symptoms are consistent with diagnosis of the cat-eye syndrome." | 8.75 | [Cat-eye syndrome. Clinical and cytogenetical differentialdiagnosis (author's transl)]. ( Kunze, J; Tolksdorf, M; Wiedemann, HR, 1975) |
| "We report a 5 1/2-year-old girl whose clinical symptoms are consistent with diagnosis of the cat-eye syndrome." | 4.75 | [Cat-eye syndrome. Clinical and cytogenetical differentialdiagnosis (author's transl)]. ( Kunze, J; Tolksdorf, M; Wiedemann, HR, 1975) |
| "Clinically, coloboma has been described as a feature in a WDR37-related disorder and a PACS1-related disorder (Schuurs-Hoeijmakers syndrome), but not in a PACS2-related disorder." | 2.72 | Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis. ( Kosaki, K; Miyama, S; Sakaguchi, Y; Takenouchi, T; Uehara, T; Yoshihashi, H, 2021) |
| "The left eye has microphthalmia involving the anterior and posterior segments, microcornea, iris coloboma, chorioretinal dysgenesis, macular dysplasia, absence of retinal vessels, and optic nerve aplasia." | 2.48 | Ophthalmic and systemic findings in interstitial deletions of chromosome 14q: a case report and literature review. ( Aaberg, TM; Droste, PJ; Hassan, AS; Pearce, ZD, 2012) |
| "Congenital glaucoma is generally related to an iridocorneal angle malformation, with an obstacle to aqueous humor outflow." | 2.43 | [Congenital glaucoma and trabeculodysgenesis. Clinical and genetic aspects]. ( Dureau, P, 2006) |
| "Mild to moderate mental retardation was found in 32% (16/50) of the cases." | 2.41 | Phenotypic variability of Cat-Eye syndrome. ( Berends, MJ; Leegte, B; Tan-Sindhunata, G; van Essen, AJ, 2001) |
| "The echocardiogram revealed an atrial septal defect with interatrial aneurysm." | 2.41 | Atrial septal defect with interatrial aneurysm and Axenfeld-Rieger syndrome. ( Bekir, NA; Güngör, K, 2000) |
| "Rieger's syndrome is a rare autosomal-dominant disorder characterized by dental, ocular, and periumbilical abnormalities." | 2.40 | Rieger's syndrome: a case report. ( John, R; Munshi, AK; Prabhu, NT, 1997) |
| "In "idiopathic" forms of pituitary dwarfism, defects limited to either the hypothalamus or pituitary have been suggested by releasing hormone stimulation studies and it is quite likely that specific defects of the hypothalamus, and pituitary, as well as defects in releasing hormonal synthesis and secretion and growth hormone synthesis and secretion all exist." | 2.35 | Hereditary forms of growth hormone deficiency and resistance. ( Rimoin, DL, 1976) |
| "Autosomal dominant microphthalmia with late-onset keratitis and iris coloboma/aniridia has not been reported before." | 1.38 | Microphthalmia, late onset keratitis, and iris coloboma/aniridia in a family with a novel PAX6 mutation. ( Li, S; Xiao, X; Zhang, Q, 2012) |
| "Lens coloboma is a rare congenital disorder of crystalline lens characterized by notching of the equator of the lens." | 1.37 | Lens coloboma and associated ocular malformations. ( Hu, Z; Li, J; Ma, X, 2011) |
| "Here we report a case of spina bifida with associated ocular anomalies and review the literature of previous spina bifida cases with ocular manifestations." | 1.35 | A case of spina bifida with ocular manifestations. ( Bozkurt, E; Cakir, M; Demirkale, HI; Demirok, A; Kara, N; Yazici, AT; Yilmaz, OF, 2009) |
| "The results remind us that ocular coloboma may be accompanied by arachnoid cyst and may be associated with SOX2 mutation, which will be helpful for improving diagnosis and patient care." | 1.35 | Novel SOX2 mutation associated with ocular coloboma in a Chinese family. ( Liang, X; Wang, P; Yi, J; Zhang, Q, 2008) |
| "Axenfeld-Rieger syndrome is an ocular anterior segment dysgenesis, autosomal dominantly inherited, commonly associated with glaucoma and systemic anomalies." | 1.34 | [Variability of clinical manifestations in the family with Axenfeld-Rieger syndrome]. ( Kamińska, A; Pawluczyk-Dyjecińska, M; Sokołowska-Oracz, A; Szaflik, JP, 2007) |
| "The cataracts in these infants with trisomy 13 had similar clinical features, which were different than those seen in other types of cataracts in infants." | 1.33 | Clinical ocular abnormalities in infants with trisomy 13. ( Lueder, GT, 2006) |
| "Gillespie syndrome is a rare variant form of aniridia, characterized by mental retardation, nonprogressive cerebellar ataxia, and iris hypoplasia." | 1.33 | Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation. ( Egel, RT; Hilchie-Schmidt, C; Howarth, RJ; Robinson, D; Ticho, BH; Traboulsi, EI, 2006) |
| "She presented with repeated otitis." | 1.32 | Hyper-IgM syndrome with CHARGE association. ( Aragón, P; Bahillo, P; Cambronero, R; Cantero, T; Gómez, S; Solís, P, 2003) |
| "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." | 1.32 | PHACE syndrome: association with persistent fetal vasculature and coloboma-like iris defect. ( Balashanmugan, A; Lasky, JB; Sandu, M, 2004) |
| "Axenfeld-Rieger Syndrome is a disorder of morphogenesis which is autosomal dominantly inherited." | 1.32 | Posterior embryotoxon may not be a forme fruste of Axenfeld-Rieger's Syndrome. ( Karri, B; Kaye, SB; Sim, KT, 2004) |
| "The association of moderate mental retardation, behavioural problems, macrocephaly, dysmorphic features with iris coloboma, and supernumerary nipples was observed in two brothers with a terminal deletion 4q33-->4qter and a terminal duplication 7q34-->7qter." | 1.32 | Familial cryptic translocation with deletion 4q33-->4qter and duplication 7q34-->7qter in brothers with mental retardation, macrocephaly and iris coloboma. ( Driessen, SD; Engelen, JJ; Fryns, JP; Moog, U; van Schrojenstein Lantman-de Valk, HM, 2003) |
| "We report five cases of complex microphthalmia with other ocular malformations in infants or children, which were evaluated to investigate the relationship between the corneal diameters and total axial length." | 1.31 | Five cases of microphthalmia with other ocular malformations. ( Choi, HY; Kim, HJ; Lee, JE; Lee, JS; Oum, BS; Shin, YG, 2001) |
| "Intraocular pressure was lowered, and visual field loss was stabilized with topical medications." | 1.31 | Unilateral glaucoma in Sotos syndrome (cerebral gigantism). ( Flynn, JT; Gedde, SJ; Yen, MT, 2000) |
| "A 17-year-old female with Goltz's syndrome was examined because of visual acuity loss in her right eye." | 1.30 | Focal dermal hypoplasia (Goltz's syndrome). ( Erden, I; Günalp, I; Gündüz, K, 1997) |
| "Alagille syndrome is associated with a characteristic group of ocular findings without apparent serious functional significance and probably unrelated to fat-soluble vitamin deficiency." | 1.30 | Ocular abnormalities in Alagille syndrome. ( Aclimandos, WA; Baker, AJ; Bentley, C; Bird, AC; Davies, A; Hingorani, M; Mieli-Vergani, G; Nischal, KK; Vivian, A, 1999) |
| "One child had an iris coloboma." | 1.29 | Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness: a newly recognized autosomal recessive disorder? ( Barrow, M; Donnai, D, 1993) |
| "We report a male infant with iris coloboma, choanal atresia, postnatal retardation of growth and psychomotor development, genital anomaly, ear anomaly, and anal atresia." | 1.28 | Limb anomalies in the CHARGE association. ( Meinecke, P; Polke, A; Schmiegelow, P, 1989) |
| "The left eye was microphthalmic with a coloboma of the uveal tract and retina." | 1.28 | Retinoblastoma, microphthalmia, coloboma, and neuroepithelioma of the pineal body. ( Davidorf, FH; Makley, TA; Mauger, TF; Rogers, GL, 1992) |
| "In the fourth child hypogonadotropic hypogonadism and tertiary thyroid deficiency were diagnosed which responded well to thyroxine treatment." | 1.28 | New observations on midline defects: coincidence of anophthalmos, microphthalmos and cryptophthalmos with hypothalamic disorders. ( Bierich, JR; Christie, M; Heinrich, JJ; Martinez, AS, 1991) |
| "An infant is described with coloboma of the right eye, holoprosencephaly and diabetes insipidus without craniofacial malformations." | 1.28 | Alobar holoprosencephaly, diabetes insipidus and coloboma without craniofacial abnormalities: a case report. ( Casaer, P; de Vries, LS; de Zegher, F; Devlieger, H; Eggermont, E; Van Gool, S; Vanderschueren-Lodeweyckx, M, 1990) |
| "Patients with ocular coloboma and its variants may exhibit notching of the iris, peripapillary staphylomas, crater-like excavation of the optic disc, funnel-shaped widening of the retrobulbar optic nerve, cup-shaped filling defects in the perioptic subarchnoid space, and concurrent anomalies of the face, skull, and brain." | 1.27 | Congenital optic nerve colobomas: CT demonstration. ( Gardner, TW; Naidich, TP; Zaparackas, ZG, 1984) |
| "Gene dosage effects for catalase (CAT) were studied in two unrelated patients with an interstitial deletion involving 11p13 to determine precisely the sites of the genes for CAT and the Wilms tumor--aniridia, genitourinary abnormalities, and mental retardation triad (WAGR) in the 11p13 band." | 1.27 | Regional mapping of catalase and Wilms tumor--aniridia, genitourinary abnormalities, and mental retardation triad loci to the chromosome segment 11p1305----p1306. ( Hamawaki, M; Kasai, R; Kikkawa, K; Kimira, S; Kimoto, H; Matsuoka, K; Narahara, K; Ogata, M, 1984) |
| "Retinoblastoma, nephroblastoma and sympathoblastoma may be related to genome modification." | 1.27 | [Chromosome 11 and cancer]. ( Gilgenkrantz, S; Gregoire, MJ; Himont, F; Pernot, C; Pierson, M, 1983) |
| "Eighty-nine children with the Waardenburg syndrome were identified during diagnostic surveys of 3006 deaf children attending 19 special schools in southern Africa." | 1.27 | The Waardenburg syndrome in deaf children in southern Africa. ( Beighton, P; Sellars, S, 1983) |
| "In addition to acronymic features of Coloboma, Heart disease, Atresia of the choanae, Retarded growth and development, Genital hypoplasia, and Ear anomalies, other important diagnostic features include facial paralysis and feeding problems suggestive of velopharyngeal incompetency." | 1.27 | The spectrum of clinical features in CHARGE syndrome. ( Davenport, SL; Hefner, MA; Mitchell, JA, 1986) |
| "The child has mild developmental delay, coloboma of the right eye, and Hirschsprung's disease." | 1.27 | Concurrent de novo interstitial deletion of band 2p22 and reciprocal translocation (3;7)(p21;q22). ( Campbell, NT; Keith, CG; Webb, GC, 1988) |
| "Partial coloboma, observed only with transillumination techniques, occur in 16% of male patients diagnosed with Kallmann syndrome." | 1.27 | Ophthalmic midline dysgenesis in Kallmann syndrome. ( Currie, J; Jaffe, MJ; Schwankhaus, JD; Sherins, RJ, 1987) |
| "The authors describe a family showing coloboma of the optic nerve associated with chorioretinal coloboma and coloboma of the iris." | 1.27 | Hereditary colobomatous anomalies of the optic nerve head. ( Alfieri, MC; Greco, A; Magli, A; Pignalosa, B, 1986) |
| "A 4-year-old male child had coloboma of the iridochoroid, cleft soft palate, hypertelorism with an antimongoloid slant of the eyes, epicanthal folds, hearing deficit, congenital heart disease (pulmonary arteriovenous fistula), mental and growth retardation, and a 47,XY + marker chromosome." | 1.27 | Cat's eye syndrome with cleft soft palate. ( Nakamura, K, 1985) |
| "Medical treatment of the glaucoma was successful." | 1.26 | Rieger's anomaly with congenital glaucoma a case presentation of postnatal anterior segment maturation. ( Leib, ML; Little, JM; Saheb, NN, 1979) |
| "Wilms' tumor was diagnosed in two children each of whom has an identical twin." | 1.26 | The role of genetic factors in the etiology of Wilms' tumor: two pairs of monozygous twins with congenital abnormalities (aniridia; hemihypertrophy) and discordance for Wilms' tumor. ( Borges, W; Honig, GR; Maurer, HS; Pendergrass, TW, 1979) |
| " His red blood cells contained normal activities of glutathione reductase (gene on 8p) and lactate dehydrogeanse A (gene on 11p12), indicating a gene dosage consistent with the chromosomal findings." | 1.26 | Aniridia-Wilms' tumor association: evidence for specific deletion of 11p13. ( Atkins, L; Francke, U; Holmes, LB; Riccardi, VM, 1979) |
| "Ophthalmological examination revealed microphthalmia, bilateral colobomas of iris, leukoma of the right eye, convergent strabismus in the left eye." | 1.26 | [Double optic papilla in eye coloboma (author's transl)]. ( Junge, J, 1978) |
| "At first a coloboma of the disc was suspected." | 1.26 | [Tuberous sclerosis with megalocornea and coloboma of the iris (author's transl)]. ( Latta, E; Welge-Lüssen, L, 1976) |
| "The existence of a trisomy 22 has been definitely established by newer methods of karyotype analysis which permit distinction between the acrocentric chromosomes of group G." | 1.25 | Trisomy 22. ( Ionasescu, V; Simpson, J; Zellweger, H, 1975) |
| "An association of ocular colobomata and congenital heart disease was observed in seven patients." | 1.25 | Ocular colobomata, cardiac defect, and other anomalies: a study of seven cases including two sibs. ( Ho, CK; Kaufman, RL; Podos, SM, 1975) |
| "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." | 1.25 | Mesoectodermal dysplasia of the iris and cornea, mental retardation and myopathy: a sporadic case. ( Duenas, D; Hiatt, RL; Johnson, WW; Summitt, RL, 1971) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 183 (61.00) | 18.7374 |
| 1990's | 50 (16.67) | 18.2507 |
| 2000's | 47 (15.67) | 29.6817 |
| 2010's | 17 (5.67) | 24.3611 |
| 2020's | 3 (1.00) | 2.80 |
| Authors | Studies |
|---|---|
| MacDonald, IM | 1 |
| Modeste, D | 1 |
| MacPherson, MJ | 1 |
| Bacci, GM | 1 |
| Polizzi, S | 1 |
| Mari, F | 1 |
| Conti, V | 1 |
| Caputo, R | 1 |
| Guerrini, R | 1 |
| Sakaguchi, Y | 1 |
| Yoshihashi, H | 1 |
| Uehara, T | 1 |
| Miyama, S | 1 |
| Kosaki, K | 1 |
| Takenouchi, T | 1 |
| Graziano, C | 1 |
| Gusson, E | 1 |
| Severi, G | 1 |
| Isidori, F | 1 |
| Wischmeijer, A | 1 |
| Brugnara, M | 1 |
| Seri, M | 1 |
| Rossi, C | 1 |
| Chang, TC | 1 |
| Bauer, M | 1 |
| Puerta, HS | 1 |
| Greenberg, MB | 1 |
| Cavuoto, KM | 1 |
| Bengarai, W | 1 |
| Chokrani, H | 1 |
| Berraho, A | 1 |
| Torrado, LA | 1 |
| Ho, ML | 1 |
| Brodsky, MC | 2 |
| Shakrawal, J | 1 |
| Selvan, H | 1 |
| Sharma, A | 1 |
| Angmo, D | 1 |
| Raval, V | 1 |
| Rao, S | 1 |
| Das, T | 1 |
| Gironi, LC | 1 |
| Zottarelli, F | 1 |
| Savoldi, G | 1 |
| Notarangelo, LD | 1 |
| Basso, ME | 1 |
| Ferrero, I | 1 |
| Timeus, F | 1 |
| Fagioli, F | 1 |
| Maiuri, L | 1 |
| Colombo, E | 1 |
| Savoia, P | 1 |
| Agarwal, R | 1 |
| Nongrem, G | 1 |
| Maharana, PK | 1 |
| Sharma, N | 1 |
| Lee, NY | 1 |
| Lee, YE | 1 |
| Mok, J | 1 |
| Kim, M | 1 |
| Park, SH | 1 |
| Chamney, S | 1 |
| Willoughby, CE | 1 |
| McLoone, E | 1 |
| Ang, GS | 1 |
| Simpson, SA | 1 |
| Reddy, AR | 1 |
| Bredrup, C | 1 |
| Matejas, V | 1 |
| Barrow, M | 2 |
| Bláhová, K | 1 |
| Bockenhauer, D | 1 |
| Fowler, DJ | 1 |
| Gregson, RM | 1 |
| Maruniak-Chudek, I | 1 |
| Medeira, A | 1 |
| Mendonça, EL | 1 |
| Kagan, M | 1 |
| Koenig, J | 1 |
| Krastel, H | 1 |
| Kroes, HY | 1 |
| Saggar, A | 1 |
| Sawyer, T | 1 |
| Schittkowski, M | 1 |
| Swietliński, J | 1 |
| Thompson, D | 1 |
| VanDeVoorde, RG | 1 |
| Wittebol-Post, D | 2 |
| Woodruff, G | 1 |
| Zurowska, A | 1 |
| Hennekam, RC | 1 |
| Zenker, M | 1 |
| Russell-Eggitt, I | 1 |
| Arikawa, A | 1 |
| Yoshida, S | 1 |
| Yoshikawa, H | 1 |
| Ishikawa, K | 1 |
| Yamaji, Y | 1 |
| Arita, RI | 1 |
| Ueno, A | 1 |
| Ishibashi, T | 1 |
| Riise, R | 2 |
| D'haene, B | 1 |
| De Baere, E | 1 |
| Grønskov, K | 1 |
| Brøndum-Nielsen, K | 2 |
| Kara, N | 1 |
| Yazici, AT | 1 |
| Demirkale, HI | 1 |
| Bozkurt, E | 1 |
| Cakir, M | 1 |
| Demirok, A | 1 |
| Yilmaz, OF | 1 |
| Tallón-Walton, V | 1 |
| Nieminen, P | 1 |
| Arte, S | 1 |
| Ustrell-Torrent, JM | 1 |
| Carvalho-Lobato, P | 1 |
| Manzanares-Céspedes, MC | 1 |
| Coppens, G | 1 |
| Zeyen, T | 1 |
| Gulkilik, G | 1 |
| Erdenoz, S | 1 |
| Oba, EM | 1 |
| Li, J | 1 |
| Ma, X | 1 |
| Hu, Z | 1 |
| Xiao, X | 1 |
| Li, S | 1 |
| Zhang, Q | 2 |
| Pearce, ZD | 1 |
| Droste, PJ | 1 |
| Aaberg, TM | 1 |
| Hassan, AS | 1 |
| Gasch, AT | 1 |
| Caruso, RC | 1 |
| Kaler, SG | 1 |
| Kaiser-Kupfer, M | 1 |
| Morrison, DA | 1 |
| FitzPatrick, DR | 1 |
| Fleck, BW | 1 |
| Giltay, JC | 1 |
| van Bokhoven, H | 1 |
| Kastrop, PM | 1 |
| Lock, MT | 1 |
| Moog, U | 1 |
| Engelen, JJ | 2 |
| van Schrojenstein Lantman-de Valk, HM | 1 |
| Driessen, SD | 1 |
| Fryns, JP | 5 |
| Honkanen, RA | 1 |
| Nishimura, DY | 1 |
| Swiderski, RE | 1 |
| Bennett, SR | 1 |
| Hong, S | 1 |
| Kwon, YH | 1 |
| Stone, EM | 1 |
| Sheffield, VC | 1 |
| Alward, WL | 1 |
| de Heer, IM | 1 |
| van Nesselrooij, BP | 1 |
| Spliet, W | 1 |
| Vermeij-Keers, C | 1 |
| Erkiliç, K | 1 |
| Ozkiriş, A | 1 |
| Evereklioglu, C | 1 |
| Dogan, H | 1 |
| Koçak-Midillioglu, I | 1 |
| Karadeniz, N | 1 |
| Yalvaç, I | 1 |
| Koçak-Altintas, AG | 1 |
| Duman, S | 1 |
| CALLAHAN, A | 1 |
| GREBE, H | 1 |
| COLLIER, M | 1 |
| ROBINSON, GC | 1 |
| DIKRAINIAN, DA | 1 |
| ROSEBOROUGH, GF | 1 |
| Bahillo, P | 1 |
| Cantero, T | 1 |
| Solís, P | 1 |
| Aragón, P | 1 |
| Gómez, S | 1 |
| Cambronero, R | 1 |
| Meyer, CH | 1 |
| Rodrigues, EB | 1 |
| Mennel, S | 1 |
| Strempel, I | 1 |
| Bunting, R | 1 |
| Leitch, J | 1 |
| Ekong, R | 1 |
| Jeremiah, S | 1 |
| Judah, D | 1 |
| Lehmann, O | 1 |
| Mirzayans, F | 2 |
| Hung, YC | 1 |
| Walter, MA | 3 |
| Bhattacharya, S | 1 |
| Gant, TW | 1 |
| Povey, S | 1 |
| Wolfe, J | 1 |
| Brooks, BP | 1 |
| Moroi, SE | 1 |
| Downs, CA | 1 |
| Wiltse, S | 1 |
| Othman, MI | 1 |
| Semina, EV | 1 |
| Richards, JE | 1 |
| Lasky, JB | 1 |
| Sandu, M | 1 |
| Balashanmugan, A | 1 |
| Sim, KT | 1 |
| Karri, B | 1 |
| Kaye, SB | 1 |
| Mathijssen, IB | 1 |
| Devriendt, K | 1 |
| Sznajer, Y | 1 |
| Van Eygen, M | 1 |
| Sethi, HS | 1 |
| Pal, N | 1 |
| Dada, T | 1 |
| Koolen, DA | 1 |
| Knoers, NV | 1 |
| Nillesen, WM | 1 |
| Slabbers, GH | 1 |
| Smeets, D | 1 |
| de Leeuw, N | 1 |
| Sistermans, EA | 1 |
| de Vries, BB | 1 |
| Nwosu, BU | 1 |
| Raygada, M | 1 |
| Tsilou, ET | 1 |
| Rennert, OM | 1 |
| Stratakis, CA | 1 |
| Egier, D | 1 |
| Orton, R | 1 |
| Allen, L | 1 |
| Siu, VM | 1 |
| Dureau, P | 2 |
| Mak, RK | 1 |
| Griffiths, WA | 1 |
| Mellerio, JE | 1 |
| Dressler, P | 1 |
| Gramer, E | 2 |
| Lueder, GT | 1 |
| Ticho, BH | 1 |
| Hilchie-Schmidt, C | 1 |
| Egel, RT | 1 |
| Traboulsi, EI | 2 |
| Howarth, RJ | 1 |
| Robinson, D | 1 |
| Ito, YA | 1 |
| Footz, TK | 1 |
| Murphy, TC | 1 |
| Courtens, W | 1 |
| Espana, EM | 1 |
| Mora, R | 1 |
| Liebmann, J | 1 |
| Ritch, R | 3 |
| Kutzbach, B | 1 |
| Mendelsohn, N | 1 |
| Rath, P | 1 |
| Summers, CG | 1 |
| Stefaniu, I | 1 |
| Chiotoroiu, S | 1 |
| Epure, C | 1 |
| Frasia, M | 1 |
| Thorne, MC | 1 |
| Ruiz, RE | 1 |
| Carvalho, J | 1 |
| Lesperance, MM | 1 |
| Levy, J | 1 |
| Anderson, PE | 1 |
| Kamińska, A | 1 |
| Sokołowska-Oracz, A | 1 |
| Pawluczyk-Dyjecińska, M | 1 |
| Szaflik, JP | 1 |
| Wang, P | 1 |
| Liang, X | 1 |
| Yi, J | 1 |
| Weisschuh, N | 1 |
| Wolf, C | 1 |
| Wissinger, B | 1 |
| Gilgenkrantz, S | 2 |
| Vigneron, C | 1 |
| Gregoire, MJ | 2 |
| Pernot, C | 2 |
| Raspiller, A | 2 |
| Yunis, JJ | 1 |
| Ramsay, NK | 1 |
| Tank, ES | 1 |
| Kay, R | 1 |
| Pfeiffer, RA | 1 |
| de Grouchy, J | 1 |
| Himont, F | 1 |
| Pierson, M | 1 |
| Narahara, K | 1 |
| Kikkawa, K | 1 |
| Kimira, S | 1 |
| Kimoto, H | 1 |
| Ogata, M | 1 |
| Kasai, R | 1 |
| Hamawaki, M | 1 |
| Matsuoka, K | 1 |
| Forbes, M | 1 |
| Hetherington, J | 1 |
| Harrison, R | 1 |
| Podos, SM | 2 |
| Debicka, A | 1 |
| Malinowska, G | 1 |
| Jouhaud, F | 1 |
| Augustin, P | 1 |
| Malbrel, C | 1 |
| Chew, E | 1 |
| Morin, JD | 1 |
| Shields, MB | 1 |
| Gardner, TW | 1 |
| Zaparackas, ZG | 1 |
| Naidich, TP | 1 |
| Lillquist, K | 1 |
| Warburg, M | 3 |
| Andersen, SR | 2 |
| Hägerstrand, I | 1 |
| Mayer, U | 1 |
| Grosse, KP | 1 |
| Sellars, S | 1 |
| Beighton, P | 1 |
| Schmidt, P | 1 |
| Bernth-Petersen, P | 1 |
| Clark, CE | 1 |
| Telfer, MA | 1 |
| Cowell, HR | 1 |
| Kalamchi, A | 1 |
| Steg, NL | 1 |
| Lechtenberg, R | 1 |
| Ferretti, C | 1 |
| Ginsberg, J | 2 |
| Bove, KE | 1 |
| Cuesta, MG | 1 |
| Puklin, JE | 1 |
| Riely, CA | 1 |
| Simon, RM | 1 |
| Cotlier, E | 4 |
| Shah, KN | 1 |
| Dalal, SJ | 1 |
| Desai, MP | 1 |
| Sheth, PN | 1 |
| Joshi, NC | 1 |
| Ambani, LM | 1 |
| Radhakrishnan, N | 1 |
| Kaiser-Kupfer, MI | 1 |
| White, BJ | 1 |
| Papadopoulos, N | 1 |
| Gillies, WE | 1 |
| Leisti, J | 1 |
| Aula, P | 1 |
| Hayashi, M | 1 |
| Inoda, S | 1 |
| Kotzot, D | 1 |
| Richter, K | 1 |
| Gierth-Fiebig, K | 1 |
| Tsai, JC | 1 |
| Grajewski, AL | 1 |
| Schrander-Stumpel, CT | 1 |
| De Groot-Wijnands, JB | 1 |
| De Die-Smulders, C | 1 |
| Wörle, H | 1 |
| Lewin, MA | 1 |
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23 reviews available for 2-propanol and Abnormalities, Multiple
| Article | Year |
|---|---|
Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis.
Topics: Abnormalities, Multiple; Amino Acid Substitution; Cerebellum; Choroid; Coloboma; Craniofacial Abnorm | 2021 |
Oral findings in Midline Syndrome: a case report and literature review.
Topics: Abnormalities, Multiple; Agenesis of Corpus Callosum; Child; Cleft Palate; Coloboma; Encephalocele; | 2010 |
Ophthalmic and systemic findings in interstitial deletions of chromosome 14q: a case report and literature review.
Topics: Abnormalities, Multiple; Anophthalmos; Chromosome Deletion; Chromosomes, Human, Pair 14; Coloboma; E | 2012 |
[Congenital glaucoma and trabeculodysgenesis. Clinical and genetic aspects].
Topics: Abnormalities, Multiple; Cornea; Glaucoma; Humans; Iris; Trabecular Meshwork | 2006 |
An unusual patient with Rothmund-Thomson syndrome, porokeratosis and bilateral iris dysgenesis.
Topics: Abnormalities, Multiple; Adult; Age of Onset; Antiphospholipid Syndrome; Cataract; Consanguinity; Cr | 2006 |
Rehabilitation of a child with partial unilateral cryptophthalmos and multiple congenital anomalies.
Topics: Abnormalities, Multiple; Adult; Child, Preschool; Coloboma; Eye Abnormalities; Eyelids; Face; Female | 1995 |
New autosomal recessive multiple congenital abnormalities/mental retardation syndrome with craniofacial dysmorphism absent corpus callosum, iris colobomas and connective tissue dysplasia.
Topics: Abnormalities, Multiple; Adult; Agenesis of Corpus Callosum; Child; Coloboma; Connective Tissue; Cra | 1996 |
Cytogenetic and clinical findings in a patient with a deletion of 16q23.1: first report of bilateral cataracts and a 16q deletion.
Topics: Abnormalities, Multiple; Autistic Disorder; Cataract; Child, Preschool; Chromosome Aberrations; Chro | 1997 |
Rieger's syndrome: a case report.
Topics: Abnormalities, Multiple; Anodontia; Child; Facial Bones; Female; Humans; Hypertelorism; Iris; Radiog | 1997 |
Cardiovascular anomaly in Rieger Syndrome: heterogeneity or contiguity?
Topics: Abnormalities, Multiple; Anterior Eye Segment; Aortic Valve Stenosis; Child; Face; Humans; Iris; Mal | 1998 |
Atrial septal defect with interatrial aneurysm and Axenfeld-Rieger syndrome.
Topics: Abnormalities, Multiple; Adult; Anterior Eye Segment; Echocardiography; Eye Abnormalities; Face; Fem | 2000 |
Phenotypic variability of Cat-Eye syndrome.
Topics: Abnormalities, Multiple; Adult; Anal Canal; Chromosome Inversion; Chromosomes, Human, Pair 22; Colob | 2001 |
[Rieger syndrome].
Topics: Abnormalities, Multiple; Coloboma; Eye Abnormalities; Humans; Iris; Syndrome | 2001 |
Phenotypic variability of the cat eye syndrome. Case report and review of the literature.
Topics: Abnormalities, Multiple; Adult; Chromosomes, Human, Pair 22; Coloboma; Craniofacial Abnormalities; F | 2001 |
[Cat-eye syndrome. Clinical and cytogenetical differentialdiagnosis (author's transl)].
Topics: Abnormalities, Multiple; Alkaline Phosphatase; Anus, Imperforate; Autoradiography; Child, Preschool; | 1975 |
Hereditary forms of growth hormone deficiency and resistance.
Topics: Abnormalities, Multiple; Africa; Anencephaly; Animals; Brain; Cleft Lip; Cleft Palate; Drug Resistan | 1976 |
Oto-palatal-digital syndrome type II with X-linked cerebellar hypoplasia/hydrocephalus.
Topics: Abnormalities, Multiple; Cerebellum; Cleft Palate; Coloboma; Hearing Loss; Hearing Loss, Bilateral; | 1991 |
Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome possibly localised on chromosome 2.
Topics: Abnormalities, Multiple; Blepharoptosis; Child; Chromosome Aberrations; Chromosome Disorders; Chromo | 1991 |
[Newly discovered structural chromosome aberrations in long familial syndromes, associations and sequences. Prader-Willi syndrome, Miller-Dieker syndrome, Giedion-Langer syndrome, Aniridia-Wilms' tumor association, DiGeorge sequence, Wiedemann-Beckwith sy
Topics: Abnormalities, Multiple; Brain; Child; Chromosome Aberrations; Chromosome Disorders; DiGeorge Syndro | 1988 |
[Eye anomalies in chromosomal aberrations].
Topics: Abnormalities, Multiple; Aneuploidy; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Huma | 1971 |
[Wilms' tumor and congenital malformations].
Topics: Abnormalities, Multiple; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Human, 16-18; Di | 1973 |
Ectopia lentis in systemic heritable disorders.
Topics: Abnormalities, Multiple; Body Constitution; Dwarfism; Ehlers-Danlos Syndrome; Elbow; Female; Fingers | 1974 |
Oral manifestations of systemic genetic disorders. 3.
Topics: Abnormalities, Multiple; Anodontia; Central Nervous System Diseases; Cornea; Ectodermal Dysplasia; E | 1971 |
277 other studies available for 2-propanol and Abnormalities, Multiple
| Article | Year |
|---|---|
Iris Flocculi Investigated for Familial Thoracic Aortic Aneurysms and Dissections.
Topics: Abnormalities, Multiple; Actins; Adult; Aortic Aneurysm, Thoracic; Aortic Dissection; Humans; Iris; | 2021 |
Atypical Ocular Coloboma in Tuberous Sclerosis-2: Report of Two Novel Cases.
Topics: Abnormalities, Multiple; Child, Preschool; Coloboma; DNA; DNA Mutational Analysis; Female; Fovea Cen | 2021 |
A de novo PUF60 mutation in a child with a syndromic form of coloboma and persistent fetal vasculature.
Topics: Abnormalities, Multiple; Child, Preschool; Coloboma; Humans; Iris; Male; Mutation, Missense; Optic N | 2017 |
Ophthalmic findings in Frank-ter Haar syndrome: report of a sibling pair.
Topics: Abnormalities, Multiple; Adaptor Proteins, Signal Transducing; Amblyopia; Child, Preschool; Choroid; | 2017 |
Axenfeld-Rieger syndrome.
Topics: Abnormalities, Multiple; Anterior Eye Segment; Cataract; Child; Ectropion; Eye Abnormalities; Eye Di | 2018 |
Posterior Embryotoxon, Corectopia, and Cerebellar Dysgenesis.
Topics: Abnormalities, Multiple; Adolescent; Anterior Eye Segment; Cerebellum; Eye Abnormalities; Eye Diseas | 2018 |
Double trouble: Microspherophakia with Axenfeld-Rieger anomaly.
Topics: Abnormalities, Multiple; Adolescent; Anterior Chamber; Anterior Eye Segment; Corneal Diseases; Ectop | 2019 |
Ocular albinism with bilateral ocular coloboma - A rare association.
Topics: Abnormalities, Multiple; Albinism, Ocular; Coloboma; Female; Fluorescein Angiography; Fundus Oculi; | 2019 |
Congenital Hypopigmentary Disorders with Multiorgan Impairment: A Case Report and an Overview on Gray Hair Syndromes.
Topics: Abnormalities, Multiple; Adult; Chediak-Higashi Syndrome; Child, Preschool; Craniofacial Abnormaliti | 2019 |
Unilateral acute hydrops in a child with bilateral microcornea and iridofundal coloboma.
Topics: Abnormalities, Multiple; Acute Disease; Adolescent; Anti-Bacterial Agents; Antihypertensive Agents; | 2019 |
Three cases with unusual ophthalmic phenotypes of congenital aniridia.
Topics: Abnormalities, Multiple; Adult; Aniridia; Anterior Eye Segment; Cornea; Corneal Opacity; Eye Abnorma | 2013 |
Amniotic band syndrome associated with an atypical iris and optic nerve defect.
Topics: Abnormalities, Multiple; Amniotic Band Syndrome; Blepharoptosis; Child; Humans; Iris; Male; Optic Ne | 2013 |
Mycophenolate mofetil embryopathy may be dose and timing dependent.
Topics: Abnormalities, Drug-Induced; Abnormalities, Multiple; Adult; Child, Preschool; Coloboma; Dose-Respon | 2008 |
Ophthalmological aspects of Pierson syndrome.
Topics: Abnormalities, Multiple; Eye Abnormalities; Female; Humans; Infant, Newborn; Iris; Laminin; Male; Mu | 2008 |
Case of novel PITX2 gene mutation associated with Peters' anomaly and persistent hyperplastic primary vitreous.
Topics: Abnormalities, Multiple; Anterior Chamber; Cataract; Cataract Extraction; Cornea; Glaucoma; Homeobox | 2010 |
Rieger syndrome is not associated with PAX6 deletion: a correction to Acta Ophthalmol Scand 2001: 79: 201-203.
Topics: Abnormalities, Multiple; Anterior Eye Segment; Eye Abnormalities; Eye Proteins; Face; Gene Deletion; | 2009 |
A case of spina bifida with ocular manifestations.
Topics: Abnormalities, Multiple; Cataract; Child; Choroid; Coloboma; Humans; Iris; Male; Retina; Spinal Dysr | 2009 |
Axenfeld's anomaly.
Topics: Abnormalities, Multiple; Adult; Anterior Eye Segment; Eye Abnormalities; Eye Diseases, Hereditary; F | 2010 |
A case of Joubert syndrome with features of ocular neovascularization.
Topics: Abnormalities, Multiple; Cerebellar Diseases; Cerebellum; Child; Electroretinography; Evoked Potenti | 2010 |
Lens coloboma and associated ocular malformations.
Topics: Abnormalities, Multiple; Aniridia; Choroid; Coloboma; Eye Abnormalities; Humans; Iris; Lens Subluxat | 2011 |
Microphthalmia, late onset keratitis, and iris coloboma/aniridia in a family with a novel PAX6 mutation.
Topics: Abnormalities, Multiple; Adult; Aniridia; Child, Preschool; Codon, Nonsense; Coloboma; Cornea; Exons | 2012 |
Menkes' syndrome: ophthalmic findings.
Topics: Abnormalities, Multiple; Adolescent; Child; Child, Preschool; Clinical Trials as Topic; Evoked Poten | 2002 |
Iris coloboma and a microdeletion of chromosome 22: del(22)(q11.22).
Topics: Abnormalities, Multiple; Adolescent; Chromosome Deletion; Chromosomes, Human, Pair 22; Coloboma; Fem | 2002 |
Split hand/split foot, iris/choroid coloboma, hypospadias and subfertility: a new developmental malformation syndrome?
Topics: Abnormalities, Multiple; Adult; Choroid; Coloboma; DNA-Binding Proteins; Foot Deformities, Congenita | 2002 |
Familial cryptic translocation with deletion 4q33-->4qter and duplication 7q34-->7qter in brothers with mental retardation, macrocephaly and iris coloboma.
Topics: Abnormalities, Multiple; Adult; Chromosomes, Human, Pair 4; Chromosomes, Human, Pair 7; Coloboma; Ge | 2003 |
A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene.
Topics: Abnormalities, Multiple; Adolescent; Adult; Aged; Anterior Eye Segment; Child; Corneal Opacity; DNA | 2003 |
Parietal bone agenesis and associated multiple congenital anomalies.
Topics: Abnormalities, Multiple; Coloboma; DNA-Binding Proteins; Facial Bones; Fatal Outcome; Female; Heart | 2003 |
Rieger anomaly with bilateral choroidal osteoma: coincidence or association?
Topics: Abnormalities, Multiple; Adolescent; Anterior Eye Segment; Calcinosis; Choroid Neoplasms; Eye Abnorm | 2003 |
Eight-year follow-up of Axenfeld-Rieger syndrome with Turner syndrome.
Topics: Abnormalities, Multiple; Adult; Anterior Eye Segment; Eye Abnormalities; Female; Follow-Up Studies; | 2003 |
Multiple abnormalities of the iris (mesodermal tissue, atrophy and holes), with secondary glaucoma and deafness; histologic examination of one eye.
Topics: Abnormalities, Multiple; Atrophy; Congenital Abnormalities; Eye Abnormalities; Glaucoma; Hearing Dis | 1956 |
[Biemond's syndrome in relatives with coloboma of the iris, coxofemoral dysplasia and epilepsy].
Topics: Abnormalities, Multiple; Coloboma; Epilepsy; Hip; Humans; Iris; Iris Diseases; Syndrome | 1960 |
[CORNEAL DYSTROPHIES, NEVI, AND PIGMENTATION DISORDERS IN GENODERMATOSES (KERATOSIS PILARIS RUBRA AND PITYRIASIS RUBRA PILARIS)].
Topics: Abnormalities, Multiple; Corneal Dystrophies, Hereditary; Darier Disease; Dermatitis, Exfoliative; E | 1963 |
CONGENITAL HORNER'S SYNDROME AND HETEROCHROMIA IRIDUM. THEIR ASSOCIATION WITH CONGENITAL FOREGUT AND VERTEBRAL ANOMALIES.
Topics: Abnormalities, Multiple; Cervical Vertebrae; Congenital Abnormalities; Craniopharyngioma; Heart Defe | 1965 |
Hyper-IgM syndrome with CHARGE association.
Topics: Abnormalities, Multiple; Child, Preschool; Choanal Atresia; Coloboma; Cranial Nerve Diseases; Face; | 2003 |
[Juvenile glaucoma, cataract and tooth abnormalities in a young patient].
Topics: Abnormalities, Multiple; Adult; Cataract; Cataract Extraction; Cornea; Glaucoma; Humans; Iris; Male; | 2005 |
Buphthalmos in trisomy 13.
Topics: Abnormalities, Multiple; Chromosomes, Human, Pair 13; Eye Abnormalities; Female; Humans; Infant, New | 2005 |
Chromosomal anomalies on 6p25 in iris hypoplasia and Axenfeld-Rieger syndrome patients defined on a purpose-built genomic microarray.
Topics: Abnormalities, Multiple; Anodontia; Anterior Eye Segment; Cell Line; Chromosome Aberrations; Chromos | 2004 |
A novel mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome.
Topics: Abnormalities, Multiple; Adult; Anodontia; Anterior Eye Segment; DNA Mutational Analysis; Exons; Fem | 2004 |
PHACE syndrome: association with persistent fetal vasculature and coloboma-like iris defect.
Topics: Abnormalities, Multiple; Aortic Coarctation; Coloboma; Facial Neoplasms; Female; Fetal Blood; Hemang | 2004 |
Posterior embryotoxon may not be a forme fruste of Axenfeld-Rieger's Syndrome.
Topics: Abnormalities, Multiple; Adolescent; Anodontia; Eye Abnormalities; Female; Humans; Iris; Maxilla; Sk | 2004 |
Iris heterochromia: a variable feature in Verloes-Koulischer-oral-acral syndrome.
Topics: Abnormalities, Multiple; Alveolar Process; Child, Preschool; Hand Deformities, Congenital; Humans; I | 2005 |
Bilateral juvenile glaucoma with iridotrabecular dysgenesis, congenital ectropion uveae, and thickened corneal nerves.
Topics: Abnormalities, Multiple; Adult; Cornea; Glaucoma; Humans; Iris; Male | 2005 |
Partial iris hypoplasia in a patient with an interstitial subtelomeric 6p deletion not including the forkhead transcription factor gene FOXC1.
Topics: Abnormalities, Multiple; Child, Preschool; Chromosome Deletion; Chromosomes, Human, Pair 6; Female; | 2005 |
Rieger's anomaly and other ocular abnormalities in association with osteogenesis imperfecta and a COL1A1 mutation.
Topics: Abnormalities, Multiple; Adult; Atrophy; Collagen Type I; Collagen Type I, alpha 1 Chain; Corneal Ed | 2005 |
Bilateral complete isolated cryptophthalmos: a case report.
Topics: Abnormalities, Multiple; Ciliary Body; Eye Abnormalities; Eyelids; Female; Humans; Infant, Newborn; | 2005 |
[Morphology, family history, and age at diagnosis of 26 patients with Axenfeld-Rieger syndrome and glaucoma or ocular hypertension].
Topics: Abnormalities, Multiple; Chromosome Aberrations; Chromosomes, Human, Pair 13; Diagnosis, Differentia | 2006 |
Clinical ocular abnormalities in infants with trisomy 13.
Topics: Abnormalities, Multiple; Cataract; Chromosomes, Human, Pair 13; Coloboma; Fatal Outcome; Female; Hum | 2006 |
Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation.
Topics: Abnormalities, Multiple; Aniridia; Blepharoptosis; Child; DNA Mutational Analysis; Exotropia; Eye Ab | 2006 |
Analyses of a novel L130F missense mutation in FOXC1.
Topics: Abnormalities, Multiple; Adult; Animals; Anterior Eye Segment; Cell Culture Techniques; Chlorocebus | 2007 |
Bilateral prominent schwalbe ring in the anterior chamber in a patient with axenfeld-rieger syndrome and megalocornea.
Topics: Abnormalities, Multiple; Adult; Anterior Chamber; Cornea; Eye Abnormalities; Glaucoma; Gonioscopy; H | 2007 |
Sectoral iris heterochromia and retinal pigment variation in 13q-syndrome.
Topics: Abnormalities, Multiple; Child, Preschool; Chromosome Aberrations; Chromosomes, Human, 13-15; Cytoge | 2007 |
[Irido-corneal dysgenesis, Axenfeld Rieger syndrome].
Topics: Abnormalities, Multiple; Adult; Anterior Eye Segment; Corneal Opacity; Diagnosis, Differential; Eye | 2007 |
Proboscis lateralis: case report and review.
Topics: Abnormalities, Multiple; Coloboma; Diagnosis, Differential; Female; Follow-Up Studies; Humans; Infan | 2007 |
MARCHESANI'S SYNDROME.
Topics: Abnormalities, Multiple; Adolescent; Glaucoma; Humans; Intraocular Pressure; Iridectomy; Iris; Male; | 1961 |
[Variability of clinical manifestations in the family with Axenfeld-Rieger syndrome].
Topics: Abnormalities, Multiple; Adult; Cornea; Craniofacial Abnormalities; Diagnostic Techniques, Ophthalmo | 2007 |
Novel SOX2 mutation associated with ocular coloboma in a Chinese family.
Topics: Abnormalities, Multiple; Adolescent; Adult; Arachnoid Cysts; Asian People; Cataract; China; Coloboma | 2008 |
A novel mutation in the FOXC1 gene in a family with Axenfeld-Rieger syndrome and Peters' anomaly.
Topics: Abnormalities, Multiple; Anterior Eye Segment; Aryl Hydrocarbon Hydroxylases; Base Sequence; Cytochr | 2008 |
Association of del(11)(p15.1p12), aniridia, catalase deficiency, and cardiomyopathy.
Topics: Abnormalities, Multiple; Acatalasia; Cardiomyopathy, Hypertrophic; Cataract; Chromosome Banding; Chr | 1982 |
Familial occurrence of the aniridia-Wilms tumor syndrome with deletion 11p13-14.1.
Topics: Abnormalities, Multiple; Adolescent; Child, Preschool; Chromosome Aberrations; Chromosome Disorders; | 1980 |
Neoplasms associated with hemihypertophy, Beckwith-Wiedemann syndrome and aniridia.
Topics: Abnormalities, Multiple; Adrenal Cortex Neoplasms; Child, Preschool; Female; Fetal Growth Retardatio | 1980 |
Langer-Giedion syndrome and additional congenital malformations with interstitial deletion of the long arm of chromosome 8 46, XY, del 8 (q 13-22).
Topics: Abnormalities, Multiple; Bone Neoplasms; Child; Chondroma; Chromosome Deletion; Chromosomes, Human, | 1980 |
Toward clinical microcytogenetics: the aniridia and the retinoblastoma stories.
Topics: Abnormalities, Multiple; Chromosome Deletion; Chromosomes, Human, 13-15; Eye Neoplasms; Female; Huma | 1982 |
[Chromosome 11 and cancer].
Topics: Abnormalities, Multiple; Adrenal Gland Neoplasms; Chromosome Aberrations; Chromosome Deletion; Chrom | 1983 |
Regional mapping of catalase and Wilms tumor--aniridia, genitourinary abnormalities, and mental retardation triad loci to the chromosome segment 11p1305----p1306.
Topics: Abnormalities, Multiple; Adolescent; Catalase; Child, Preschool; Chromosome Banding; Chromosome Dele | 1984 |
Congenital ectropion uveae with glaucoma.
Topics: Abnormalities, Multiple; Adolescent; Adult; Child; Diagnosis, Differential; Ectropion; Eye Neoplasms | 1984 |
[A case of Rieger's syndrome].
Topics: Abnormalities, Multiple; Cataract; Cornea; Female; Humans; Infant, Newborn; Iris; Syndrome | 1984 |
[Weill-Marchesani syndrome. Study of a case].
Topics: Abnormalities, Multiple; Coloboma; Female; Humans; Iris; Lens, Crystalline; Middle Aged; Mosaicism; | 1984 |
Glaucoma in children.
Topics: Abnormalities, Multiple; Child, Preschool; Ectopia Lentis; Eye Injuries; Eye Neoplasms; Female; Gene | 1983 |
Axenfeld-Rieger syndrome: a theory of mechanism and distinctions from the iridocorneal endothelial syndrome.
Topics: Abnormalities, Multiple; Adolescent; Adult; Aged; Child; Child, Preschool; Corneal Diseases; Corneal | 1983 |
Congenital optic nerve colobomas: CT demonstration.
Topics: Abnormalities, Multiple; Coloboma; Corneal Diseases; Female; Humans; Infant; Infant, Newborn; Iris; | 1984 |
Colobomata of the iris, ciliary body and choroid in an infant with oesophago-tracheal fistula and congenital heart defects. An unknown malformation complex.
Topics: Abnormalities, Multiple; Choroid; Chromosome Inversion; Chromosomes, Human, 6-12 and X; Ciliary Body | 1980 |
[Clinical picture and inheritance of ocular symptoms in arteriohepatic dysplasia (author's transl)].
Topics: Abnormalities, Multiple; Child; Child, Preschool; Diagnosis, Differential; Eye Abnormalities; Eye Di | 1982 |
The Waardenburg syndrome in deaf children in southern Africa.
Topics: Abnormalities, Multiple; Black or African American; Black People; Color; Deafness; Female; Humans; I | 1983 |
Marchesani's syndrome.
Topics: Abnormalities, Multiple; Adult; Amino Acids; Body Constitution; Female; Fingers; Humans; Iris; Lens | 1981 |
Brief clinical report: dup(4p15 leads to 4pter) in a 19-year-old woman resulting from a maternal 4;14 translocation.
Topics: Abnormalities, Multiple; Adult; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Human, 13 | 1982 |
Ataxia with aniridia of Gillespie: a case report.
Topics: Abnormalities, Multiple; Ataxia; Brain; Female; Humans; Infant; Iris; Psychomotor Disorders; Syndrom | 1981 |
Aplasia of the optic nerve with aniridia.
Topics: Abnormalities, Multiple; Autopsy; Eye; Humans; Infant, Newborn; Iris; Male; Optic Nerve | 1980 |
Anterior segment and retinal pigmentary abnormalities in arteriohepatic dysplasia.
Topics: Abnormalities, Multiple; Adult; Bile Ducts, Intrahepatic; Child, Preschool; Cholestasis, Intrahepati | 1981 |
White forelock, pigmentary disorder of irides, and long segment Hirschsprung disease: possible variant of Waardenburg syndrome.
Topics: Abnormalities, Multiple; Female; Humans; Infant; Infant, Newborn; Intestinal Obstruction; Iris; Male | 1981 |
Colobomatous microphthalmos with diaphragmatic eventration (a case report).
Topics: Abnormalities, Multiple; Choroid; Coloboma; Diaphragmatic Eventration; Humans; Infant; Iris; Male; M | 1981 |
Aniridia and mental retardation with deletion of the short arm of chromosome 11.
Topics: Abnormalities, Multiple; Adolescent; Adult; Child; Child, Preschool; Chromosome Deletion; Chromosome | 1981 |
Hypoplasia of the iris stroma in Gregg's syndrome unaccompanied by cataract but with deafness, rubella retinopathy and onset of glaucoma in adult or adolescent life.
Topics: Abnormalities, Multiple; Adolescent; Adult; Female; Glaucoma; Humans; Iris; Male; Pregnancy; Pregnan | 1980 |
Partial trisomy 1 (q42 leads to ter).
Topics: Abnormalities, Multiple; Abortion, Spontaneous; Chromosomes, Human, 1-3; Coloboma; Female; Fetal Dis | 1980 |
[Glaucoma with Axenfeld-Rieger syndrome in three generations. Aqueous humor dynamics].
Topics: Abnormalities, Multiple; Adult; Anterior Chamber; Aqueous Humor; Family Health; Female; Glaucoma; Hu | 1994 |
Oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies: a new autosomal recessive syndrome?
Topics: Abnormalities, Multiple; Albinism, Oculocutaneous; Child; Consanguinity; Ear; Female; Genes, Recessi | 1994 |
Cardiac valvular disease and Axenfeld-Rieger syndrome.
Topics: Abnormalities, Multiple; Anterior Chamber; Aortic Valve Stenosis; Child; Eye Abnormalities; Glaucoma | 1994 |
Type III syndactyly and oculodentodigital dysplasia: a clinical spectrum.
Topics: Abnormalities, Multiple; Adult; Dental Enamel Hypoplasia; Face; Female; Humans; Infant; Infant, Newb | 1993 |
Another case of Ritscher-Schinzel-syndrome: craniocerebello-cardiac dysplasia (3C-syndrome) with associated bilateral colobomata.
Topics: Abnormalities, Multiple; Cerebellum; Child, Preschool; Coloboma; Facial Bones; Female; Heart Septal | 1994 |
Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness: a newly recognized autosomal recessive disorder?
Topics: Abnormalities, Multiple; Agenesis of Corpus Callosum; Child, Preschool; Coloboma; Deafness; Female; | 1993 |
Provisionally unique autosomal recessive chondrodysplasia punctata syndrome.
Topics: Abnormalities, Multiple; Child; Child, Preschool; Chondrodysplasia Punctata; Coloboma; Face; Female; | 1993 |
Iris coloboma, ptosis, hypertelorism, and mental retardation: Baraitser-Winter syndrome or Noonan syndrome?
Topics: Abnormalities, Multiple; Adolescent; Blepharoptosis; Coloboma; Diagnosis, Differential; Humans; Hype | 1993 |
Absent iris stroma, narrow body build and small facial bones: a new association or variant of SHORT syndrome?
Topics: Abnormalities, Multiple; Adult; Child; Child, Preschool; Facial Bones; Family Health; Female; Fetal | 1995 |
Ultrasonic evaluation of microphthalmos and coloboma. A discussion of 3 cases, with emphasis on microphthalmos with orbital cyst.
Topics: Abnormalities, Multiple; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Human, Pair 13; | 1996 |
Rieger anomaly and congenital glaucoma in the SHORT syndrome.
Topics: Abnormalities, Multiple; Child; Corneal Opacity; Eye Abnormalities; Facial Bones; Glaucoma; Humans; | 1996 |
Identification of a cat eye syndrome using DNA sequence dosage analysis.
Topics: Abnormalities, Multiple; Adult; Anus, Imperforate; Chromosome Aberrations; Chromosome Disorders; Chr | 1996 |
Characterization of a derivative chromosome 17 by fish-technique.
Topics: Abnormalities, Multiple; Cerebellum; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Huma | 1996 |
Autosomal-dominant iridogoniodysgenesis and Axenfeld-Rieger syndrome are genetically distinct.
Topics: Abnormalities, Multiple; Adult; Anterior Eye Segment; Chromosome Mapping; Chromosomes, Human, Pair 4 | 1996 |
Focal dermal hypoplasia (Goltz's syndrome).
Topics: Abnormalities, Multiple; Adolescent; Brain; Choroid; Coloboma; Cornea; Eye Abnormalities; Female; Fo | 1997 |
Ocular abnormalities in a patient with partial deletion of chromosome 6p. A case report.
Topics: Abnormalities, Multiple; Chromosome Deletion; Chromosomes, Human, Pair 6; Corneal Opacity; Eye Abnor | 1997 |
Prenatal growth retardation associated with microcephaly, microphthalmos/iris coloboma and other congenital malformations in three siblings.
Topics: Abnormalities, Multiple; Coloboma; Fetal Growth Retardation; Humans; Infant, Newborn; Iris; Microcep | 1997 |
Congenital hypodontia of maxillary lateral incisors in association with coloboma of the iris and hypomaturation type of amelogenesis imperfecta in a large kindred.
Topics: Abnormalities, Multiple; Adult; Amelogenesis Imperfecta; Anodontia; Child; Coloboma; Dermatoglyphics | 1997 |
Gillespie syndrome phenotype with a t(X;11)(p22.32;p12) de novo translocation.
Topics: Abnormalities, Multiple; Cerebellum; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Huma | 1998 |
Difficult airway management in a baby with Axenfeld-Rieger syndrome.
Topics: Abnormalities, Multiple; Anesthesia; Eye Diseases; Humans; Infant, Newborn; Intubation, Intratrachea | 1998 |
Ocular abnormalities in Alagille syndrome.
Topics: Abnormalities, Drug-Induced; Abnormalities, Multiple; Adolescent; Alagille Syndrome; Child; Child, P | 1999 |
New case of the Richieri-Costa/Guion-Almeida syndrome.
Topics: Abnormalities, Multiple; Adolescent; Cleft Lip; Cleft Palate; Growth Disorders; Humans; Iris; Male; | 1999 |
Threading analysis of the Pitx2 homeodomain: predicted structural effects of mutations causing Rieger syndrome and iridogoniodysgenesis.
Topics: Abnormalities, Multiple; Amino Acid Sequence; Amino Acid Substitution; Animals; Calorimetry; Conserv | 1999 |
Aortic dissection, patent ductus arteriosus, iris hypoplasia and brachytelephalangy in a male adolescent.
Topics: Abnormalities, Multiple; Adolescent; Aorta, Thoracic; Aortic Aneurysm; Aortic Dissection; Collagen; | 1999 |
High myopia, hypertelorism, iris coloboma, exomphalos, absent corpus callosum, and sensorineural deafness: report of a case and further evidence for autosomal recessive inheritance.
Topics: Abnormalities, Multiple; Agenesis of Corpus Callosum; Coloboma; Consanguinity; Corpus Callosum; Exop | 2000 |
Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion.
Topics: Abnormalities, Multiple; Adolescent; Body Weight; Child; Child, Preschool; Chromosome Deletion; Chro | 2000 |
Unilateral glaucoma in Sotos syndrome (cerebral gigantism).
Topics: Abnormalities, Multiple; Brain; Cataract; Cornea; Eye Abnormalities; Gigantism; Glaucoma; Humans; In | 2000 |
SHORT syndrome: a case with high hyperopia and astigmatism.
Topics: Abnormalities, Multiple; Astigmatism; Child; Cornea; Corneal Opacity; Developmental Disabilities; Ey | 2000 |
Rieger syndrome is associated with PAX6 deletion.
Topics: Abnormalities, Multiple; Anterior Eye Segment; Child; Chromosomes, Human, Pair 6; Eye Abnormalities; | 2001 |
Five cases of microphthalmia with other ocular malformations.
Topics: Abnormalities, Multiple; Cataract; Child, Preschool; Choroid; Coloboma; Corneal Opacity; Eye Abnorma | 2001 |
[Profuse lentigo, little leopard syndrome].
Topics: Abnormalities, Multiple; Anus, Imperforate; Attention Deficit Disorder with Hyperactivity; Child; Cr | 1977 |
Ophthalmic features of chromosome deletion 4p- (Wolf-Hirschhorn syndrome).
Topics: Abnormalities, Multiple; Adolescent; Adult; Azure Stains; Blepharoptosis; Chromosome Deletion; Chrom | 1978 |
Rieger's anomaly with congenital glaucoma a case presentation of postnatal anterior segment maturation.
Topics: Abnormalities, Multiple; Acetazolamide; Adult; Eye Abnormalities; Female; Glaucoma; Humans; Infant; | 1979 |
Vascular anastomoses between the iris and persistent hyperplastic primary vitreous.
Topics: Abnormalities, Multiple; Adult; Child, Preschool; Diagnosis, Differential; Eye Abnormalities; Eye Di | 1979 |
Wilms' tumor in seven children with congenital aniridia.
Topics: Abnormalities, Multiple; Child, Preschool; Diagnosis, Differential; Humans; Infant; Infant, Newborn; | 1975 |
[Wilm's tumor coexisting with congenital bilateral absence of iris].
Topics: Abnormalities, Multiple; Child, Preschool; Humans; Infant; Iris; Kidney Neoplasms; Male; Wilms Tumor | 1977 |
The role of genetic factors in the etiology of Wilms' tumor: two pairs of monozygous twins with congenital abnormalities (aniridia; hemihypertrophy) and discordance for Wilms' tumor.
Topics: Abnormalities, Multiple; Child, Preschool; Diseases in Twins; Female; Humans; Hypertrophy; Infant; I | 1979 |
Aniridia-Wilms' tumor association: evidence for specific deletion of 11p13.
Topics: Abnormalities, Multiple; Child; Chromosome Banding; Chromosome Deletion; Chromosomes, Human, 6-12 an | 1979 |
Aniridia caused by a heritable chromosome 11 deletion.
Topics: Abnormalities, Multiple; Cataract; Chromosome Deletion; Chromosomes, Human, 6-12 and X; Female; Geni | 1979 |
Irido-corneal dysgenesis.
Topics: Abnormalities, Multiple; Amblyopia; Cornea; Female; Humans; Iris; Keratoconus; Male; Strabismus; Syn | 1978 |
Ocular findings in triploidy.
Topics: Abnormalities, Multiple; Adolescent; Cataract; Chromosome Aberrations; Chromosome Disorders; Colobom | 1977 |
Heterogeneity in Waardenburg's syndrome. Report of a family with ocular albinism.
Topics: Abnormalities, Multiple; Adolescent; Adult; Albinism; Child; Child, Preschool; Deafness; Female; Gen | 1978 |
[Double optic papilla in eye coloboma (author's transl)].
Topics: Abnormalities, Multiple; Child, Preschool; Coloboma; Eye Neoplasms; Female; Humans; Iris; Leukoplaki | 1978 |
Rieger's syndrome with pericentric inversion of chromosome 6.
Topics: Abnormalities, Multiple; Adult; Anterior Chamber; Child; Chromosome Banding; Chromosome Inversion; C | 1979 |
[Therapeutic results in 45 children with congenital glaucoma].
Topics: Abnormalities, Multiple; Child; Child, Preschool; Ciliary Body; Evaluation Studies as Topic; Eye Abn | 1975 |
Glaucoma--a classic treatise--part 5.
Topics: Abnormalities, Multiple; Adrenal Cortex Hormones; Child; Eye Abnormalities; Eye Diseases; Eye Injuri | 1976 |
Malformation syndromes. A selected miscellany.
Topics: Abnormalities, Multiple; Adolescent; Child; Child, Preschool; Chromosomes, Human, 6-12 and X; Dental | 1975 |
A low birthweight syndrome, ? Rieger syndrome.
Topics: Abnormalities, Multiple; Child, Preschool; Eye Abnormalities; Female; Humans; Infant, Newborn; Infan | 1975 |
Bilateral renal agenesis with multiple congenital ocular anomalies.
Topics: Abnormalities, Multiple; Anterior Chamber; Cataract; Cornea; Eye Abnormalities; Humans; Infant, Newb | 1976 |
[Hypoplasia of the pulmonary artery in Rieger's Syndrome (author's transl)].
Topics: Abnormalities, Multiple; Angiocardiography; Child; Cineangiography; Eye Abnormalities; Female; Human | 1976 |
[Tuberous sclerosis with megalocornea and coloboma of the iris (author's transl)].
Topics: Abnormalities, Multiple; Child, Preschool; Coloboma; Corneal Diseases; Humans; Iris; Ophthalmoscopy; | 1976 |
[Aniridia associated with gonadoblastoma in Smith-Lemli-Opitz syndrome (author's transl)].
Topics: Abnormalities, Multiple; Biopsy; Diagnosis, Differential; Disorders of Sex Development; Dysgerminoma | 1976 |
[Mesodermal dysgenesis of the iris and the cornea apropos of ten cases].
Topics: Abnormalities, Multiple; Adolescent; Adult; Child; Cornea; Female; Humans; Hydrophthalmos; Infant; I | 1976 |
Trisomy 22.
Topics: Abnormalities, Multiple; Aneuploidy; Anus, Imperforate; Chromosomes, Human, 21-22 and Y; Cleft Palat | 1975 |
Ocular colobomata, cardiac defect, and other anomalies: a study of seven cases including two sibs.
Topics: Abnormalities, Multiple; Bone and Bones; Central Nervous System; Coloboma; Female; Heart Defects, Co | 1975 |
[Anterior-cleavage-syndrome (author's transl)].
Topics: Abnormalities, Multiple; Adolescent; Anodontia; Congenital Abnormalities; Cornea; Diagnosis, Differe | 1975 |
[2. Obesity due to overeating. Symptoms and classification of various forms of obesity].
Topics: Abnormalities, Multiple; Child; Child Nutritional Physiological Phenomena; Coloboma; Diabetes Mellit | 1975 |
[Rieger's syndrome and glaucoma].
Topics: Abnormalities, Multiple; Adolescent; Adult; Cornea; Female; Glaucoma; Humans; Iris; Male; Pedigree; | 1976 |
[Atypical cat eye syndrome. Fluorescence in situ hybridization of metaphase chromosomes].
Topics: Abnormalities, Multiple; Anus, Imperforate; Child, Preschool; Chromosome Aberrations; Chromosome Dis | 1992 |
Retinoblastoma, microphthalmia, coloboma, and neuroepithelioma of the pineal body.
Topics: Abnormalities, Multiple; Brain Neoplasms; Choroid; Coloboma; Eye Neoplasms; Humans; Infant; Iris; Ma | 1992 |
Axenfeld's anomaly associated with Down's syndrome.
Topics: Abnormalities, Multiple; Adult; Anterior Chamber; Corneal Edema; Down Syndrome; Humans; Iris; Kerato | 1992 |
Blepharophimosis, iris coloboma, microgenia, hearing loss, postaxial polydactyly, aplasia of corpus callosum, hydroureter, and developmental delay.
Topics: Abnormalities, Multiple; Agenesis of Corpus Callosum; Child, Preschool; Coloboma; Developmental Disa | 1990 |
Midline facial defects with ocular colobomata.
Topics: Abnormalities, Multiple; Adult; Child, Preschool; Coloboma; Developmental Disabilities; Face; Female | 1990 |
Cleft anterior segment with maternal hypervitaminosis A.
Topics: Abnormalities, Drug-Induced; Abnormalities, Multiple; Adult; Cornea; Female; Humans; Infant, Newborn | 1991 |
Apparently new MCA/MR syndrome in sibs with cleft lip and palate and other facial, eye, heart, and intestinal anomalies.
Topics: Abnormalities, Multiple; Child; Female; Genes, Recessive; Heart Defects, Congenital; Humans; Infant; | 1991 |
Axenfeld anomaly in association with hypomelanosis of Ito.
Topics: Abnormalities, Multiple; Adolescent; Anterior Eye Segment; Female; Humans; Iris; Karyotyping; Pigmen | 1991 |
Heterogeneity in dominant anterior segment malformations.
Topics: Abnormalities, Multiple; Adult; Anterior Eye Segment; Child; Cornea; Eye Diseases; Female; Genes, Do | 1991 |
New observations on midline defects: coincidence of anophthalmos, microphthalmos and cryptophthalmos with hypothalamic disorders.
Topics: Abnormalities, Multiple; Anophthalmos; Anus, Imperforate; Coloboma; Congenital Hypothyroidism; Growt | 1991 |
Ocular pathologic features of arteriohepatic dysplasia (Alagille's syndrome).
Topics: Abnormalities, Multiple; Child; Ciliary Body; Common Bile Duct; Eye; Female; Humans; Infant; Infant, | 1990 |
The Yemenite deaf-blind hypopigmentation syndrome. A new oculo-dermato-auditory syndrome.
Topics: Abnormalities, Multiple; Blindness; Child; Coloboma; Cytogenetics; Deafness; Female; Humans; Iris; M | 1990 |
Interstitial deletion of chromosome 4, del(4)(q12q21.1), in a child with multiple congenital abnormalities.
Topics: Abnormalities, Multiple; Chromosome Banding; Chromosome Deletion; Chromosomes, Human, Pair 4; Colobo | 1990 |
Posterior axial corneal malformation and uveoretinal angiodysgenesis--a neurocristopathy?
Topics: Abnormalities, Multiple; Choroid; Ciliary Body; Cornea; Endothelium, Corneal; Female; Humans; Infant | 1990 |
Familial Wolf-Hirschhorn syndrome associated with Rieger anomaly of the eye.
Topics: Abnormalities, Multiple; Chromosomes, Human, Pair 10; Chromosomes, Human, Pair 4; Eye Abnormalities; | 1990 |
A distinct dysmorphic syndrome with congenital glaucoma and probable autosomal recessive inheritance.
Topics: Abnormalities, Multiple; Adolescent; Bone and Bones; Child; Facial Bones; Female; Fundus Oculi; Glau | 1990 |
Rieger anomaly and uveal coloboma with associated anomalies. Third observation of a rare oculo-palato-osseous syndrome--the Abruzzo-Erikson syndrome.
Topics: Abnormalities, Multiple; Adult; Anterior Chamber; Child, Preschool; Cleft Palate; Coloboma; Facial B | 1990 |
[Dysgenesis of the neural crest, ectoderm, mesoderm and fetal alcohol syndrome].
Topics: Abnormalities, Multiple; Adolescent; Anterior Chamber; Ectodermal Dysplasia; Eye Abnormalities; Fema | 1990 |
Alobar holoprosencephaly, diabetes insipidus and coloboma without craniofacial abnormalities: a case report.
Topics: Abnormalities, Multiple; Brain; Coloboma; Diabetes Insipidus; Humans; Infant; Iris; Male | 1990 |
The spectrum of clinical features in CHARGE syndrome.
Topics: Abnormalities, Multiple; Adolescent; Adult; Central Nervous System Diseases; Child, Preschool; Choan | 1986 |
Limb anomalies in the CHARGE association.
Topics: Abnormalities, Multiple; Anus, Imperforate; Choanal Atresia; Coloboma; Developmental Disabilities; F | 1989 |
A deletion map of the WAGR region on chromosome 11.
Topics: Abnormalities, Multiple; Chromosome Deletion; Chromosome Mapping; Chromosomes, Human, Pair 11; DNA P | 1989 |
Re-evaluation of new X-linked syndrome for evidence of CHARGE syndrome or association.
Topics: Abnormalities, Multiple; Adolescent; Cleft Palate; Coloboma; Dwarfism; Ear; Follow-Up Studies; Heari | 1989 |
Sibs with growth deficiency, delayed bone age, congenital hip dislocation, and iridocorneal abnormalities with glaucoma.
Topics: Abnormalities, Multiple; Body Height; Cornea; Female; Genes, Recessive; Glaucoma; Growth Disorders; | 1989 |
Retinal detachment in Axenfeld-Rieger syndrome.
Topics: Abnormalities, Multiple; Adolescent; Adult; Cornea; Female; Glaucoma; Humans; Iris; Male; Retinal De | 1989 |
The E7-associated cell-surface antigen: a marker for the 11p13 chromosomal deletion associated with aniridia-Wilms tumor.
Topics: Abnormalities, Multiple; Animals; Antibodies, Monoclonal; Antigens, Surface; Child; Chromosome Bandi | 1985 |
Peters' anomaly as a consequence of genetic and nongenetic syndromes.
Topics: Abnormalities, Multiple; Child, Preschool; Cornea; Corneal Transplantation; Eye; Eye Abnormalities; | 1986 |
Median cleft of the upper lip in association with frontonasal meningocele, left aniridia and lenticular opacity.
Topics: Abnormalities, Multiple; Cataract; Cleft Lip; Female; Frontal Sinus; Humans; Infant; Infant, Newborn | 1986 |
Additional eye findings in a girl with the velo-cardio-facial syndrome.
Topics: Abnormalities, Multiple; Child; Coloboma; Eye Abnormalities; Facial Asymmetry; Female; Heart Defects | 1986 |
Aniridia, atypical iris defects, optic pit and the morning glory disc anomaly in a family.
Topics: Abnormalities, Multiple; Eye Abnormalities; Female; Humans; Infant; Iris; Optic Disk | 1986 |
Ocular coloboma associated with a solitary maxillary central incisor and growth failure: manifestations of holoprosencephaly.
Topics: Abnormalities, Multiple; Cataract; Choroid; Coloboma; Eye Abnormalities; Growth Disorders; Humans; I | 1987 |
Partial aniridia, cerebellar ataxia, and mental deficiency (Gillespie syndrome) in two brothers.
Topics: Abnormalities, Multiple; Cerebellar Ataxia; Child; Humans; Intellectual Disability; Iris; Male; Synd | 1988 |
Piebaldism-Waardenburg syndrome: histopathologic evidence for a neural crest syndrome.
Topics: Abnormalities, Multiple; Eye Color; Hirschsprung Disease; Humans; Infant; Iris; Male; Neural Crest; | 1988 |
Parental origin of the extra chromosome in the cat eye syndrome: evidence from heteromorphism and in situ hybridization analysis.
Topics: Abnormalities, Multiple; Anus, Imperforate; Child, Preschool; Chromosome Banding; Chromosomes, Human | 1988 |
Concurrent de novo interstitial deletion of band 2p22 and reciprocal translocation (3;7)(p21;q22).
Topics: Abnormalities, Multiple; Adult; Child, Preschool; Chromosome Banding; Chromosome Deletion; Chromosom | 1988 |
Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome.
Topics: Abnormalities, Multiple; Blepharoptosis; Body Height; Bone Diseases, Developmental; Child; Child, Pr | 1988 |
Charge association vs. velo-cardio-facial syndrome.
Topics: Abnormalities, Multiple; Heart Defects, Congenital; Humans; Iris; Retina; Syndrome; Terminology as T | 1988 |
Ophthalmic midline dysgenesis in Kallmann syndrome.
Topics: Abnormalities, Multiple; Adolescent; Adult; Coloboma; Humans; Hypogonadism; Iris; Lacrimal Apparatus | 1987 |
Re-evaluation of the supernumerary chromosome in an individual with cat eye syndrome.
Topics: Abnormalities, Multiple; Aneuploidy; Anus, Imperforate; Chromosomes, Human, Pair 22; Coloboma; Genet | 1987 |
Proximal duplication of the long arm of chromosome 10 (10q11.2----10q22): a distinct clinical entity.
Topics: Abnormalities, Multiple; Adolescent; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Huma | 1987 |
[Axenfeld-Rieger syndrome--a report of 10 cases].
Topics: Abnormalities, Multiple; Adolescent; Adult; Child; Cornea; Diagnosis, Differential; Female; Glaucoma | 1987 |
Histopathologic study of ocular changes in a syndrome of multiple congenital anomalies.
Topics: Abnormalities, Multiple; Agenesis of Corpus Callosum; Coloboma; Humans; Infant; Iris; Male; Optic Ne | 1987 |
Rieger's anomaly associated with Marfan's syndrome.
Topics: Abnormalities, Multiple; Anterior Eye Segment; Child; Female; Humans; Iris; Marfan Syndrome | 1987 |
Corneal melanocytes in aniridia.
Topics: Abnormalities, Multiple; Cornea; Female; Humans; Infant, Newborn; Iris; Melanocytes | 1986 |
Inverted duplication of 22pter----q11.21 in cat-eye syndrome.
Topics: Abnormalities, Multiple; Anus, Imperforate; Branchial Region; Chromosome Aberrations; Chromosome Inv | 1986 |
Familial isolated aniridia associated with a translocation involving chromosomes 11 and 22 [t(11;22)(p13;q12.2)].
Topics: Abnormalities, Multiple; Child, Preschool; Chromosome Banding; Chromosome Deletion; Chromosomes, Hum | 1986 |
Aniridia, congenital glaucoma, and hydrocephalus in a male infant with ring chromosome 6.
Topics: Abnormalities, Multiple; Chromosome Aberrations; Chromosomes, Human, Pair 6; Glaucoma; Humans; Hydro | 1986 |
Hereditary colobomatous anomalies of the optic nerve head.
Topics: Abnormalities, Multiple; Adult; Child, Preschool; Choroid; Coloboma; Female; Humans; Iris; Male; Opt | 1986 |
Cat's eye syndrome with cleft soft palate.
Topics: Abnormalities, Multiple; Child, Preschool; Cleft Palate; Coloboma; Genetic Markers; Humans; Iris; Ma | 1985 |
Seckel's syndrome with pseudopolycoria.
Topics: Abnormalities, Multiple; Cataract; Cornea; Dwarfism; Humans; Infant, Newborn; Iris; Male; Ultrasonog | 1985 |
Rieger's and Williams syndrome. A rare clinical case.
Topics: Abnormalities, Multiple; Anterior Eye Segment; Child; Coloboma; Dentition; Female; Genes, Dominant; | 1985 |
Anophthalmos and first branchial arch defects.
Topics: Abnormalities, Multiple; Anophthalmos; Branchial Region; Coloboma; Ear; Humans; Infant; Iris; Jaw Ab | 1985 |
Mesodermal dysgenesis and hyaline membranes.
Topics: Abnormalities, Multiple; Adult; Anterior Chamber; Child; Child, Preschool; Cornea; Corneal Opacity; | 1973 |
[An unexplained syndrom with eye and tooth defects (author's transl)].
Topics: Abnormalities, Multiple; Adolescent; Adult; Corneal Opacity; Dental Enamel Hypoplasia; DMF Index; Ey | 1974 |
Hyaline corneal opacities in a case of Rieger's anomaly.
Topics: Abnormalities, Multiple; Child; Cornea; Corneal Opacity; Descemet Membrane; Eye Abnormalities; Femal | 1969 |
Agenesis of the corpus callosum in the median facial cleft syndrome and associated ocular malformations.
Topics: Abnormalities, Multiple; Agenesis of Corpus Callosum; Coloboma; Cornea; Craniofacial Dysostosis; Ecz | 1973 |
Arhinencephaly unilateralis, uveal coloboma, and lens reduplication.
Topics: Abnormalities, Multiple; Child; Child, Preschool; Choroid; Ciliary Body; Coloboma; Craniofacial Dyso | 1974 |
Ocular histopathology of Norrie's disease.
Topics: Abnormalities, Multiple; Blindness; Eye; Eye Abnormalities; Genes, Recessive; Hearing Disorders; Hum | 1974 |
Autosomal dominant transmission of isolated growth hormone deficiency in iris-dental dysplasia (Rieger's syndrome).
Topics: Abnormalities, Multiple; Adolescent; Adult; Agenesis of Corpus Callosum; Anencephaly; Blood Glucose; | 1974 |
Congenital corneal opacities in a patient with Rieger's anomaly and Down's syndrome.
Topics: Abnormalities, Multiple; Aged; Cornea; Corneal Opacity; Down Syndrome; Eye Abnormalities; Female; Gl | 1968 |
Ocular changes in simple trisomy and in a few cases of partial trisomy.
Topics: Abnormalities, Multiple; Adolescent; Cataract; Child; Child, Preschool; Chromosome Aberrations; Chro | 1968 |
Persistent hyperplastic primary vitreous. Cases in Denmark 1942-1966. A mainly histopathological study.
Topics: Abnormalities, Multiple; Adolescent; Adult; Child; Child, Preschool; Ciliary Body; Denmark; Eye; Eye | 1968 |
[Congenital glaucoma-juvenile glaucoma].
Topics: Abnormalities, Multiple; Adolescent; Adult; Age Factors; Cornea; Corneal Opacity; Diagnosis, Differe | 1974 |
Wilms' tumor and congenital aniridia.
Topics: Abnormalities, Multiple; Child; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Iris; Mal | 1968 |
[Multiple abnormalities resembling Apert's syndrome].
Topics: Abnormalities, Multiple; Child; Cleft Lip; Cleft Palate; Clubfoot; Craniofacial Dysostosis; Diagnosi | 1969 |
Computer-assisted analysis of chromosomal abnormalities: detection of a deletion in aniridia-Wilms' tumor syndrome.
Topics: Abnormalities, Multiple; Cataract; Child, Preschool; Chromosome Aberrations; Chromosome Disorders; C | 1974 |
[Wilms' tumor and aniridia--a genetically determined syndrome?].
Topics: Abnormalities, Multiple; Cryptorchidism; Humans; Infant; Intellectual Disability; Iris; Kidney Neopl | 1972 |
Letter: A syndrome of partial aniridia, unilateral renal agenesis, and mild psychomotor retardation in siblings.
Topics: Abnormalities, Multiple; Cephalometry; Child, Preschool; Eyelids; Female; Glaucoma; Humans; Infant; | 1974 |
[Congenital hypodontia combined with Rieger's syndrome].
Topics: Abnormalities, Multiple; Anodontia; Child; Cornea; Eye Diseases; Humans; Iris; Male; Syndrome | 1973 |
Ocular manifestations of the Meckel syndrome.
Topics: Abnormalities, Multiple; Anophthalmos; Cataract; Cornea; Craniofacial Dysostosis; Diseases in Twins; | 1972 |
Ocular anomalies in trisomy 13-15: an analysis of 13 eyes with two new findings.
Topics: Abnormalities, Multiple; Adult; Anterior Chamber; Cartilage; Chromosomes, Human, 13-15; Coloboma; Co | 1972 |
[Ocular malformations in a case of crying cat syndrome].
Topics: Abnormalities, Multiple; Cri-du-Chat Syndrome; Cytogenetics; Eye Abnormalities; Female; Humans; Infa | 1972 |
Anterior chamber cleavage syndrome. A typical case of Peters' anomaly with primary aphakia.
Topics: Abnormalities, Multiple; Anterior Chamber; Cornea; Corneal Opacity; Descemet Membrane; Eye Abnormali | 1972 |
Iris dysplasia, orbital hypertelorism, and psychomotor retardation: a dominantly inherited developmental syndrome.
Topics: Abnormalities, Multiple; Adult; Brain; Child, Preschool; Craniofacial Dysostosis; Eye Abnormalities; | 1973 |
Bilateral oro-ocular cleft. Case report.
Topics: Abnormalities, Multiple; Choroid; Cleft Palate; Coloboma; Eye Abnormalities; Face; Female; Humans; I | 1973 |
[Agenesis of the corpus callosum, median facial fissure syndrome, and eye malformations].
Topics: Abnormalities, Multiple; Agenesis of Corpus Callosum; Choroid; Coloboma; Cornea; Craniofacial Dysost | 1972 |
Dysplasia epiphysialis, with ocular anomalies.
Topics: Abnormalities, Multiple; Cataract; Chondrodysplasia Punctata; Cornea; Eye Diseases; Humans; Infant; | 1972 |
Strabismus in the rubella syndrome.
Topics: Abnormalities, Multiple; Brain Damage, Chronic; Cataract; Cataract Extraction; Child; Child, Prescho | 1972 |
Systemic and ocular manifestations of the rubella syndrome.
Topics: Abnormalities, Multiple; Adult; Cataract; Child; Child, Preschool; Eye Diseases; Eye Manifestations; | 1972 |
[Malformation-retardation syndrome with lobster claws, coloboma of the iris, renal agenesia and ventricular septal defect].
Topics: Abnormalities, Multiple; Coloboma; Foot Deformities, Congenital; Hand Deformities, Congenital; Heart | 1972 |
[2 cases of Rieger's syndrome].
Topics: Abnormalities, Multiple; Adult; Cornea; Eye Diseases; Female; Humans; Iris; Male | 1973 |
Clinical characteristics of microphthalmia with colobomas of the Australian Shepherd Dog.
Topics: Abnormalities, Multiple; Animals; Cataract; Choroid; Coloboma; Cornea; Dog Diseases; Dogs; Fundus Oc | 1973 |
[Syndrome of the 1st branchial arch].
Topics: Abnormalities, Multiple; Adult; Coloboma; Dermoid Cyst; Eye Neoplasms; Humans; Intellectual Disabili | 1973 |
Congenital cardiac disease and the "cat eye" syndrome.
Topics: Abnormalities, Multiple; Adolescent; Anal Canal; Azygos Vein; Child; Child, Preschool; Choroid; Chro | 1973 |
Ocular pathology in trisomy 18(Edwards' syndrome).
Topics: Abnormalities, Multiple; Adult; Chromosomes, Human, 16-18; Coloboma; Cysts; Epithelium; Eye; Eye Dis | 1973 |
Ocular movement disturbances in a family with trisomy 22 syndrome.
Topics: Abnormalities, Multiple; Adolescent; Adult; Child, Preschool; Chromosomes, Human, 21-22 and Y; Colob | 1973 |
Reiger's syndrome with chromosomal anomaly (report of a case).
Topics: Abnormalities, Multiple; Adult; Anodontia; Chromosome Aberrations; Chromosome Disorders; Chromosomes | 1973 |
Schmid-Fraccaro syndrome ("cat's eye" syndrome).
Topics: Abnormalities, Multiple; Adolescent; Anus, Imperforate; Cataract; Child; Choroid; Coloboma; Craniofa | 1973 |
[Cat-eye syndrome].
Topics: Abnormalities, Multiple; Adult; Anal Canal; Child, Preschool; Chromosome Aberrations; Chromosome Dis | 1973 |
Pupillary-block glaucoma in the Marchesani syndrome.
Topics: Abnormalities, Multiple; Adult; Anterior Chamber; Body Constitution; Dilatation; Eye Diseases; Femal | 1973 |
Humeroradial synostosis. A case report.
Topics: Abnormalities, Multiple; Choroid; Chromosomes; Coloboma; Dermatoglyphics; Female; Humans; Humerus; I | 1973 |
[Hypertelorism and other congenital malformations in a family].
Topics: Abnormalities, Multiple; Adult; Cephalometry; Child, Preschool; Craniofacial Dysostosis; Dental Enam | 1973 |
Unusual aspects of progressive essential iris atrophy.
Topics: Abnormalities, Multiple; Adult; Angiography; Atrophy; Cornea; Diagnosis, Differential; Eye Diseases; | 1974 |
Case report. The cat-eye syndrome with unusual skeletal malformations.
Topics: Abnormalities, Multiple; Anus, Imperforate; Arm; Chromosome Aberrations; Chromosome Disorders; Chrom | 1974 |
Congenital mesodermal anomalies and glaucoma.
Topics: Abnormalities, Multiple; Cornea; Eye Abnormalities; Fingers; Glaucoma; Hand Deformities, Congenital; | 1968 |
[Eye abnormalities of a child with an extra chromosome fragment].
Topics: Abnormalities, Multiple; Child, Preschool; Chromosome Aberrations; Chromosome Disorders; Coloboma; E | 1968 |
[Congenital glaucoma with dominant heredity associated with ocular and somatic malformations (Rieger's syndrome)].
Topics: Abnormalities, Multiple; Adolescent; Adult; Child; Child, Preschool; Cleft Palate; Corneal Opacity; | 1968 |
Intraocular cartilage in a microphthalmic eye of an otherwise healthy girl.
Topics: Abnormalities, Multiple; Adipose Tissue; Cartilage; Ciliary Body; Coloboma; Eye; Eye Abnormalities; | 1969 |
[Coloboma of iris and choroid in a patient with XYY-syndrome].
Topics: Abnormalities, Multiple; Adult; Choroid; Coloboma; Eye Abnormalities; Humans; Iris; Juvenile Delinqu | 1970 |
Ocular pathology of Patau's syndrome with an unbalanced D-D translocation.
Topics: Abnormalities, Multiple; Anterior Chamber; Autopsy; Chromosomes, Human, 1-3; Chromosomes, Human, 13- | 1970 |
[Frequent familial occurrence of a multiplex malformation of the eye].
Topics: Abnormalities, Multiple; Adult; Blepharoptosis; Child; Child, Preschool; Chromosome Aberrations; Chr | 1971 |
Uveal colobomata and other anomalies in three generations of one family.
Topics: Abnormalities, Multiple; Adult; Blepharoptosis; Child, Preschool; Cleft Lip; Cleft Palate; Coloboma; | 1971 |
Inter-oculo-irido-auditory dysplasia. (Waardenburg, van der Hoeve, Halberstsma syndrome).
Topics: Abnormalities, Multiple; Child; Deafness; Egypt; Eye Abnormalities; Female; Humans; Iris; Osteogenes | 1971 |
Ocular pathology of Trisomy 18.
Topics: Abnormalities, Multiple; Chromatin; Chromosomes, Human, 16-18; Cornea; Descemet Membrane; Epithelium | 1971 |
Mesoectodermal dysplasia of the iris and cornea, mental retardation and myopathy: a sporadic case.
Topics: Abnormalities, Multiple; Cornea; Ectodermal Dysplasia; Eye Abnormalities; Humans; Intellectual Disab | 1971 |
Surgery of the rubella cataract.
Topics: Abnormalities, Multiple; Age Factors; Cataract; Cataract Extraction; Child, Preschool; Deafness; Fem | 1972 |
[Histological and etiological aspects of corneal mesodermal dysgenesis with secondary iridic mesodermal dysgenesis].
Topics: Abnormalities, Multiple; Adult; Cornea; Corneal Opacity; Descemet Membrane; Eye Diseases; Female; Hu | 1972 |
Congenital anomalies associated with horseshoe kidney.
Topics: Abnormalities, Multiple; Adolescent; Cardiovascular Abnormalities; Central Nervous System; Chromosom | 1972 |
[Hearing disorders in Waardenburg's syndrome].
Topics: Abnormalities, Multiple; Adult; Audiometry; Child; Child, Preschool; Deafness; Eyebrows; Humans; Iri | 1972 |
Coloboma of the iris and choroid and retinal detachment in oculo-auricular dysplasia (Goldenhar syndrome).
Topics: Abnormalities, Multiple; Adult; Choroid; Coloboma; Dermoid Cyst; Eye Neoplasms; Humans; Iris; Male; | 1972 |
A newborn with the cat-eye syndrome.
Topics: Abnormalities, Multiple; Adolescent; Adult; Anal Canal; Autoradiography; Cells, Cultured; Child; Chi | 1972 |
Dominant microspherophakia.
Topics: Abnormalities, Multiple; Adolescent; Adult; Child; Child, Preschool; Female; Fingers; Genes, Dominan | 1971 |
Anomalies of iris and anterior-chamber angle. Occurrence in a child with multiple congenital anomalies.
Topics: Abnormalities, Multiple; Anterior Chamber; Autopsy; Choristoma; Female; Glaucoma; Humans; Infant; In | 1971 |
[A case report of a family of Rieger's anomaly].
Topics: Abnormalities, Multiple; Adult; Atropine; Child; Cornea; Deafness; Eye Diseases; Glaucoma; Humans; I | 1971 |
[Oligrophrenia and aniridia: a clinical and genetic contribution].
Topics: Abnormalities, Multiple; Adolescent; Child; Child, Preschool; Eye Diseases; Female; Humans; Intellec | 1971 |
Iridogoniodysgenesis with cataract.
Topics: Abnormalities, Multiple; Adolescent; Adult; Anterior Chamber; Cataract; Child; Ethnicity; Female; Hu | 1971 |
[Diagnostic and therapeutic difficulties concerning glaucoma in Rieger's syndrome].
Topics: Abnormalities, Multiple; Adult; Child, Preschool; Cornea; Eye Diseases; Glaucoma; Humans; Iris; Male | 1971 |
Primary mesodermal iris dysgenesis. Report of pedigrees in three generations.
Topics: Abnormalities, Multiple; Adolescent; Adult; Aged; Child; Cornea; Corneal Opacity; Eye Diseases; Fema | 1971 |
The anterior chamber cleavage syndrome.
Topics: Abnormalities, Multiple; Adolescent; Anterior Chamber; Cornea; Corneal Opacity; Eye Diseases; Female | 1969 |
Rieger's syndrome.
Topics: Abnormalities, Multiple; Child; Cornea; Eye Diseases; Female; Humans; Iris; Oral Manifestations | 1970 |
Anterior segment anomalies. A clinical pathologic report of conditions simulating congenital glaucoma.
Topics: Abnormalities, Multiple; Adolescent; Anterior Chamber; Birth Injuries; Child; Cornea; Corneal Dystro | 1968 |
Rieger's syndrome.
Topics: Abnormalities, Multiple; Adult; Child; Dental Enamel Hypoplasia; Eye Diseases; Glaucoma; Growth Horm | 1969 |
[A case of Ullrich-Fremerey-Dohna-François syndrome (dysostosis oculo-mandibulo-facialis)].
Topics: Abnormalities, Multiple; Alopecia; Atrophy; Cataract; Coloboma; Dwarfism; Humans; Iris; Male; Mandib | 1969 |
Human chromosomal deletion: two patients with the 4p- syndrome.
Topics: Abnormalities, Multiple; Autoradiography; Chromosome Aberrations; Chromosome Disorders; Chromosomes, | 1970 |
Bilateral colobomas of iris and choroid. Association with partial deletion of a chromosome of group D.
Topics: Abnormalities, Multiple; Choroid; Chromosome Aberrations; Chromosome Disorders; Coloboma; Eye; Human | 1970 |
[Marchesani syndrome associated with a megalocornea and an atrophy of the iris: echographic study].
Topics: Abnormalities, Multiple; Adult; Atrophy; Body Constitution; Cornea; Electroretinography; Eye Disease | 1970 |
Glaucoma and Rieger's syndrome.
Topics: Abnormalities, Multiple; Adult; Cornea; Eye Diseases; Glaucoma; Humans; Iris; Male; Middle Aged | 1970 |
[Rieger's syndrome].
Topics: Abnormalities, Multiple; Child; Cornea; Eye Diseases; Female; Humans; Iris; Male; Middle Aged | 1970 |
[A Swiss family with Klein-Waardenburg's syndrome associated with hyperkeratosis of the palms and feet and with serious oligophrenia].
Topics: Abnormalities, Multiple; Adolescent; Blood Cells; Child; Deafness; Diseases in Twins; Eye Diseases; | 1970 |
The syndrome of goldenhar affecting two siblings.
Topics: Abnormalities, Multiple; Child; Child, Preschool; Dermoid Cyst; Eye Neoplasms; Female; Hemangioma; H | 1970 |
Mesodermal dysgenesis of the cornea and iris (Rieger's anomaly). Report of a case.
Topics: Abnormalities, Multiple; Adult; Child, Preschool; Cornea; Corneal Opacity; Eye Diseases; Female; Hum | 1970 |
[Mesodermal dysgenesis of the cornea and iris. (Rieger's syndrome in a mother and twin child)].
Topics: Abnormalities, Multiple; Adult; Child, Preschool; Cornea; Diseases in Twins; Eye Diseases; Female; G | 1970 |
An Arab family with Waardenburg syndrome.
Topics: Abnormalities, Multiple; Adolescent; Adult; Deafness; Female; Humans; Iraq; Iris; Male; Middle Aged; | 1971 |
[On a case of Bietti's syndrome with aniridia, changes in the anterior chamber angle, patches of conjunctival xerosis and congenital cataract].
Topics: Abnormalities, Multiple; Adult; Anterior Chamber; Cataract; Conjunctiva; Female; Humans; Intellectua | 1967 |
Marchesani's syndrome and chamber angle anomalies.
Topics: Abnormalities, Multiple; Anterior Chamber; Cataract Extraction; Child; Connective Tissue; Gonioscopy | 1968 |
Varieties of congenital glaucoma.
Topics: Abnormalities, Multiple; Adult; Anterior Chamber; Child; Coloboma; Cornea; Glaucoma; Humans; Iris; M | 1968 |