Page last updated: 2024-10-31

apnea and Abnormalities, Multiple

apnea has been researched along with Abnormalities, Multiple in 28 studies

Apnea: A transient absence of spontaneous respiration.

Abnormalities, Multiple: Congenital abnormalities that affect more than one organ or body structure.

Research Excerpts

ExcerptRelevanceReference
"We report an 11-month-old boy with acetazolamide-responsive epileptic apnea and inherited glycosylphosphatidylinositol (GPI)-anchor deficiency who presented with decreased serum alkaline phosphatase associated with compound PIGT mutations."7.88Epileptic apnea in a patient with inherited glycosylphosphatidylinositol anchor deficiency and PIGT mutations. ( Adachi, Y; Ishiyama, A; Kinoshita, T; Kohashi, K; Matsumoto, N; Miya, K; Murakami, Y; Ohba, C; Saitsu, H; Sasaki, M; Sato, N; Sugai, K; Tanaka, T; Yuasa, S, 2018)
"This case study describes an instance of death in an early term female newborn with congenital apnea in the clinical setting of multiple congenital anomalies (retrognathia, posteriorly rotated ears, camptodactyly, and arthrogryposis) and prenatal history of polyhydramnios."7.80Brainstem tegmental necrosis and olivary hypoplasia: raising awareness of a rare neuropathologic correlate of congenital apnea. ( Anderson, CE; de Chadarévian, JP; Guzman, MA; Katsetos, CD; Legido, A; Pascasio, JM, 2014)
" The neonatal course was complicated by severe obstructive apnea necessitating tracheostomy."7.80Syngnathia and obstructive apnea in a case of popliteal pterygium syndrome. ( Dariya, V; Edmonds, JL; Lee, EI; Posey, JE; Premkumar, MH; Probst, FJ, 2014)
" To our knowledge this is the first report of apnea in a patient diagnosed with M-CMTC, likely due to cervicomedullary cord compression and perhaps exacerbated by unilateral laryngeal hypertrophy."7.75Apnea and macrocephaly-cutis marmorata telangiectatica congenita. ( Franklin, B; Gasco, J; Nauta, HJ; Rangel-Castilla, L, 2009)
"An 11-month-old boy with multiple surface anomalies and respiratory distress due to upper airway narrowing developed generalized tonic seizures coinciding with apnea."7.73[High-dose phenobarbital therapy is effective for the control of intractable tonic seizure with apnea in a case of multiple anomalies syndrome]. ( Hayashi, T; Horio, K; Kubota, M; Mimaki, M; Tomita, S, 2006)
"We present a female with premature birth, polyhydramnios, congenital apnea, cranial nerve palsies, orofacial and limb anomalies."7.72A lethal association of congenital apnea with brainstem tegmental necrosis. ( Barboriak, D; Cummings, TJ; Delong, GR; Moya, MP, 2004)
"Abnormal respiration with episodic tachypnea-apnea can occur in several syndromes (particularly, the Rett, Joubert, Mohr and Dandy-Walker syndromes)."7.67Differential diagnosis of syndromes with abnormal respiration (tachypnea-apnea). ( Boltshauser, E; Dumermuth, G; Lange, B, 1987)
" The infant experienced recurrent apnea and persistent severe tracheomalacia, which necessitated tracheostomy at 5 months of age."4.78Atelosteogenesis type 3: the first patient in Japan and a survivor for more than 1 year. ( Fujioka, M; Furukawa, T; Kikushima, H; Kuwashima, S; Nishimura, G; Tanaka, G, 1992)
" The adverse events during sedation including airway obstruction, apnea, desaturation, bradycardia, and hypotension were also assessed."3.91Incidence and risk factors of unplanned intubation during pediatric sedation for MRI. ( Gil, NS; Hahm, TS; Jeong, JS; Kim, D; Lee, EK; Shin, YH, 2019)
"We report an 11-month-old boy with acetazolamide-responsive epileptic apnea and inherited glycosylphosphatidylinositol (GPI)-anchor deficiency who presented with decreased serum alkaline phosphatase associated with compound PIGT mutations."3.88Epileptic apnea in a patient with inherited glycosylphosphatidylinositol anchor deficiency and PIGT mutations. ( Adachi, Y; Ishiyama, A; Kinoshita, T; Kohashi, K; Matsumoto, N; Miya, K; Murakami, Y; Ohba, C; Saitsu, H; Sasaki, M; Sato, N; Sugai, K; Tanaka, T; Yuasa, S, 2018)
"This case study describes an instance of death in an early term female newborn with congenital apnea in the clinical setting of multiple congenital anomalies (retrognathia, posteriorly rotated ears, camptodactyly, and arthrogryposis) and prenatal history of polyhydramnios."3.80Brainstem tegmental necrosis and olivary hypoplasia: raising awareness of a rare neuropathologic correlate of congenital apnea. ( Anderson, CE; de Chadarévian, JP; Guzman, MA; Katsetos, CD; Legido, A; Pascasio, JM, 2014)
" The neonatal course was complicated by severe obstructive apnea necessitating tracheostomy."3.80Syngnathia and obstructive apnea in a case of popliteal pterygium syndrome. ( Dariya, V; Edmonds, JL; Lee, EI; Posey, JE; Premkumar, MH; Probst, FJ, 2014)
" In recent admission, she presented to emergency room with fever, hyperpnea, and apnea."3.78Joubert syndrome presenting as unilateral dysplastic kidney, hypotonia, and respiratory problem. ( Malaki, M; Nemati, M; Shoaran, M, 2012)
" To our knowledge this is the first report of apnea in a patient diagnosed with M-CMTC, likely due to cervicomedullary cord compression and perhaps exacerbated by unilateral laryngeal hypertrophy."3.75Apnea and macrocephaly-cutis marmorata telangiectatica congenita. ( Franklin, B; Gasco, J; Nauta, HJ; Rangel-Castilla, L, 2009)
"This report presents an otherwise healthy infant who developed unexplained apnea and long-segment Hirschsprung disease."3.74Haddad syndrome: a case of an infant with central congenital hypoventilation syndrome and Hirschsprung disease. ( Lai, D; Schroer, B, 2008)
"An 11-month-old boy with multiple surface anomalies and respiratory distress due to upper airway narrowing developed generalized tonic seizures coinciding with apnea."3.73[High-dose phenobarbital therapy is effective for the control of intractable tonic seizure with apnea in a case of multiple anomalies syndrome]. ( Hayashi, T; Horio, K; Kubota, M; Mimaki, M; Tomita, S, 2006)
" Cesarian section was performed under general anesthesia in order to keep the infant in a state of apnea to prevent aerophagia, the so-called "sleeping baby", at the 38th week of gestation."3.72[Anesthetic management for a radical operation in an infant with cloacal exstrophy]. ( Hazama, K; Niiya, T; Shichinohe, Y; Tsunoda, K; Uruno, S, 2003)
"We present a female with premature birth, polyhydramnios, congenital apnea, cranial nerve palsies, orofacial and limb anomalies."3.72A lethal association of congenital apnea with brainstem tegmental necrosis. ( Barboriak, D; Cummings, TJ; Delong, GR; Moya, MP, 2004)
" He had episodic tachypnea and apnea, inspiratory stridor, aspiration, and growth and mental retardation."3.71Bifid epiglottis associated with Joubert's syndrome. ( Kim, JW; Kim, KH; Sung, MW, 2001)
" The electromyographic activity of intercostal muscles coupled with the C4 ventral root activity assessed in a medulla-spinal cord preparation revealed a high respiratory rate with short inspiratory duration and frequent apnea."3.70Rnx deficiency results in congenital central hypoventilation. ( Arata, A; Arata, S; Brown, GA; Horning, S; Korsmeyer, SJ; Okumura, K; Onimaru, H; Roth, KA; Sasazuki, T; Shirasawa, S, 2000)
" Endotracheal intubation was attempted, because she developed apnea on her delivery, but it was not successful."3.69[The use of a laryngeal mask in a newborn infant with Nager acrofacial dysostosis]. ( Aoki, T; Nagahama, H; Shimoyama, T; Suzuki, Y; Takahashi, K; Tateda, T, 1995)
"Striated muscle cells within peripheral nerve trunks, a very rare dishistogenetic lesion, was found in the arytenoid submucosa of a ten and a half week old afroamerican male with the Freeman-Sheldon syndrome (craniocarpotarsal dysplasia) who presented with obstructive apnea."3.68Laryngomalacia and intra-neural striated muscle in an infant with the Freeman-Sheldon syndrome. ( Galliani, CA; Matt, BH, 1993)
"Abnormal respiration with episodic tachypnea-apnea can occur in several syndromes (particularly, the Rett, Joubert, Mohr and Dandy-Walker syndromes)."3.67Differential diagnosis of syndromes with abnormal respiration (tachypnea-apnea). ( Boltshauser, E; Dumermuth, G; Lange, B, 1987)
" The newborn had apnea, hypotonia, seizures, hyopglycemia, and prolong jaundice."3.65Optic nerve hypoplasia with hypopituitarism. Septo-optic dysplasia with hypopituitarism. ( Crichton, JU; Dolman, CL; McCormick, AQ; Patel, H; Robinson, GC; Tze, WJ, 1975)
"Brain abscess and hypoxemia were thought to be serious complications resulting from CAPV and were successfully corrected by living donor liver transplantation at the age of 4 months."1.33Successful liver transplantation for congenital absence of the portal vein complicated by intrapulmonary shunt and brain abscess. ( Doi, H; Haga, H; Kamei, H; Kasahara, M; Ogawa, K; Ogura, Y; Ohnishi, Y; Tanaka, K; Ueda, M; Yoshitoshi, EY, 2005)
"The patient also had optic nerve colobomata, a Dandy-Walker malformation, micrognathia and apneic spells."1.31Optic nerve coloboma, Dandy-Walker malformation, microglossia, tongue hamartomata, cleft palate and apneic spells: an existing oral-facial-digital syndrome or a new variant? ( Lemire, EG; Toriello, HV, 2002)

Research

Studies (28)

TimeframeStudies, this research(%)All Research%
pre-19905 (17.86)18.7374
1990's4 (14.29)18.2507
2000's11 (39.29)29.6817
2010's8 (28.57)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Kohashi, K1
Ishiyama, A1
Yuasa, S1
Tanaka, T1
Miya, K1
Adachi, Y1
Sato, N1
Saitsu, H1
Ohba, C1
Matsumoto, N1
Murakami, Y1
Kinoshita, T1
Sugai, K1
Sasaki, M1
Kulkarni, K1
Karnik, P1
Dave, N1
Garasia, M1
Kim, D1
Lee, EK1
Jeong, JS1
Gil, NS1
Hahm, TS1
Shin, YH1
Staudt, GE1
Reddy, SK1
Moore, AD1
Katsetos, CD1
Anderson, CE1
Guzman, MA1
Pascasio, JM1
de Chadarévian, JP1
Legido, A1
Posey, JE1
Dariya, V1
Edmonds, JL1
Lee, EI1
Probst, FJ1
Premkumar, MH1
Rashid, S1
Dean, M1
Serajee, F1
Franklin, B1
Gasco, J1
Rangel-Castilla, L1
Nauta, HJ1
Malaki, M1
Nemati, M1
Shoaran, M1
Toomes, M1
Maleck, WH1
Koetter, KP1
Petroianu, GA1
Uruno, S1
Niiya, T1
Shichinohe, Y1
Hazama, K1
Tsunoda, K1
Moya, MP1
Delong, GR1
Barboriak, D1
Cummings, TJ1
Silvani, P1
Camporesi, A1
Zoia, E1
Leoncino, S1
Salvo, I1
Ohnishi, Y1
Ueda, M1
Doi, H1
Kasahara, M1
Haga, H1
Kamei, H1
Ogawa, K1
Ogura, Y1
Yoshitoshi, EY1
Tanaka, K1
Hayashi, T1
Kubota, M1
Mimaki, M1
Tomita, S1
Horio, K1
Lai, D1
Schroer, B1
Egger, J1
Baraitser, M1
Galliani, CA1
Matt, BH1
Singh, HA1
Nagahama, H1
Suzuki, Y1
Tateda, T1
Aoki, T1
Takahashi, K1
Shimoyama, T1
Shirasawa, S1
Arata, A1
Onimaru, H1
Roth, KA1
Brown, GA1
Horning, S1
Arata, S1
Okumura, K1
Sasazuki, T1
Korsmeyer, SJ1
Sung, MW1
Kim, JW1
Kim, KH1
Toriello, HV1
Lemire, EG1
Williams, HJ1
Sane, SM1
Patel, H1
Tze, WJ1
Crichton, JU1
McCormick, AQ1
Robinson, GC1
Dolman, CL1
Kuwashima, S1
Nishimura, G1
Kikushima, H1
Tanaka, G1
Furukawa, T1
Fujioka, M1
Boltshauser, E1
Lange, B1
Dumermuth, G1
Picot, C1
Monnet, P1
Bethenod, M1
Beraud, C1
Jaubert de Beaujeu, M1
Salle, B1

Reviews

1 review available for apnea and Abnormalities, Multiple

ArticleYear
Atelosteogenesis type 3: the first patient in Japan and a survivor for more than 1 year.
    Acta paediatrica Japonica : Overseas edition, 1992, Volume: 34, Issue:5

    Topics: Abnormalities, Multiple; Apnea; Cleft Palate; Dwarfism; Facial Bones; Humans; Intellectual Disabilit

1992

Other Studies

27 other studies available for apnea and Abnormalities, Multiple

ArticleYear
Epileptic apnea in a patient with inherited glycosylphosphatidylinositol anchor deficiency and PIGT mutations.
    Brain & development, 2018, Volume: 40, Issue:1

    Topics: Abnormalities, Multiple; Acyltransferases; Apnea; Atrophy; Developmental Disabilities; Epilepsy; Gly

2018
Ultra-modified Rapid Sequence Induction.
    Paediatric anaesthesia, 2017, Volume: 27, Issue:12

    Topics: Abnormalities, Multiple; Anesthesia, Inhalation; Apnea; Esophageal Atresia; Humans; Infant, Newborn;

2017
Incidence and risk factors of unplanned intubation during pediatric sedation for MRI.
    Journal of magnetic resonance imaging : JMRI, 2019, Volume: 49, Issue:4

    Topics: Abnormalities, Multiple; Adolescent; Airway Obstruction; Anesthesiology; Apnea; Bradycardia; Child;

2019
Apneic oxygenation via nasal cannula for intubation of a premature neonate with multiple airway anomalies.
    BMJ case reports, 2019, Mar-05, Volume: 12, Issue:3

    Topics: Abnormalities, Multiple; Airway Management; Apnea; Cannula; Humans; Hypoxia; Infant, Newborn; Infant

2019
Brainstem tegmental necrosis and olivary hypoplasia: raising awareness of a rare neuropathologic correlate of congenital apnea.
    Seminars in pediatric neurology, 2014, Volume: 21, Issue:2

    Topics: Abnormalities, Multiple; Apnea; Brain Diseases; Brain Stem; Fatal Outcome; Female; Humans; Infant, N

2014
Syngnathia and obstructive apnea in a case of popliteal pterygium syndrome.
    European journal of pediatrics, 2014, Volume: 173, Issue:12

    Topics: Abnormalities, Multiple; Apnea; Cleft Lip; Cleft Palate; Eye Abnormalities; Female; Fingers; Humans;

2014
"Molar Tooth Sign" Reveals the Cause of Apnea in a Term Neonate.
    The Journal of pediatrics, 2016, Volume: 174

    Topics: Abnormalities, Multiple; Apnea; Brain; Cerebellum; Diagnosis, Differential; Eye Abnormalities; Femal

2016
Apnea and macrocephaly-cutis marmorata telangiectatica congenita.
    Brain & development, 2009, Volume: 31, Issue:9

    Topics: Abnormalities, Multiple; Apnea; Brain; Constriction, Pathologic; Decompression, Surgical; Female; Fo

2009
Joubert syndrome presenting as unilateral dysplastic kidney, hypotonia, and respiratory problem.
    Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia, 2012, Volume: 23, Issue:2

    Topics: Abnormalities, Multiple; Apnea; Cerebellar Diseases; Cerebellum; Eye Abnormalities; Female; Humans;

2012
Out-of-hospital management of benzodiazepine-resistant status epilepticus in a child with Wolf-Hirschhorn syndrome.
    Epileptic disorders : international epilepsy journal with videotape, 2003, Volume: 5, Issue:2

    Topics: Abnormalities, Multiple; Anticonvulsants; Apnea; Child; Chromosome Deletion; Chromosomes, Human, Pai

2003
[Anesthetic management for a radical operation in an infant with cloacal exstrophy].
    Masui. The Japanese journal of anesthesiology, 2003, Volume: 52, Issue:11

    Topics: Abnormalities, Multiple; Adult; Aerophagy; Anesthesia, General; Anesthesia, Inhalation; Anesthesia,

2003
A lethal association of congenital apnea with brainstem tegmental necrosis.
    Pediatric neurology, 2004, Volume: 30, Issue:3

    Topics: Abnormalities, Multiple; Apnea; Brain Stem; Calcinosis; Cerebral Hemorrhage; Cerebral Ventricles; De

2004
Anesthetic management in a child with Coffin-Siris syndrome.
    Paediatric anaesthesia, 2004, Volume: 14, Issue:8

    Topics: Abnormalities, Multiple; Amides; Analgesia, Epidural; Analgesics; Anesthetics, Inhalation; Anestheti

2004
Successful liver transplantation for congenital absence of the portal vein complicated by intrapulmonary shunt and brain abscess.
    Journal of pediatric surgery, 2005, Volume: 40, Issue:5

    Topics: Abnormalities, Multiple; Anti-Bacterial Agents; Apnea; Atrophy; Birth Weight; Brain; Brain Abscess;

2005
[High-dose phenobarbital therapy is effective for the control of intractable tonic seizure with apnea in a case of multiple anomalies syndrome].
    No to hattatsu = Brain and development, 2006, Volume: 38, Issue:5

    Topics: Abnormalities, Multiple; Anticonvulsants; Apnea; Cough; Humans; Infant, Newborn; Male; Phenobarbital

2006
Haddad syndrome: a case of an infant with central congenital hypoventilation syndrome and Hirschsprung disease.
    Journal of child neurology, 2008, Volume: 23, Issue:3

    Topics: Abnormalities, Multiple; Apnea; DNA Repeat Expansion; Hirschsprung Disease; Homeodomain Proteins; Hu

2008
Mohr syndrome variant or Joubert-Boltshauser syndrome?
    Clinical genetics, 1984, Volume: 25, Issue:1

    Topics: Abnormalities, Multiple; Apnea; Cerebellum; Humans; Orofaciodigital Syndromes; Syndrome

1984
Laryngomalacia and intra-neural striated muscle in an infant with the Freeman-Sheldon syndrome.
    International journal of pediatric otorhinolaryngology, 1993, Volume: 25, Issue:1-3

    Topics: Abnormalities, Multiple; Apnea; Choristoma; Humans; Infant; Laryngeal Diseases; Male; Microstomia; M

1993
Mental retardation, macrostomia and hyperpnoea syndrome.
    Journal of paediatrics and child health, 1993, Volume: 29, Issue:2

    Topics: Abnormalities, Multiple; Apnea; Face; Follow-Up Studies; Humans; Hyperventilation; Infant; Intellect

1993
[The use of a laryngeal mask in a newborn infant with Nager acrofacial dysostosis].
    Masui. The Japanese journal of anesthesiology, 1995, Volume: 44, Issue:11

    Topics: Abnormalities, Multiple; Apnea; Craniofacial Dysostosis; Female; Humans; Infant, Newborn; Laryngeal

1995
Rnx deficiency results in congenital central hypoventilation.
    Nature genetics, 2000, Volume: 24, Issue:3

    Topics: Abnormalities, Multiple; Animals; Apnea; Cyanosis; Electromyography; Embryonic and Fetal Development

2000
Bifid epiglottis associated with Joubert's syndrome.
    The Annals of otology, rhinology, and laryngology, 2001, Volume: 110, Issue:2

    Topics: Abnormalities, Multiple; Apnea; Cerebellum; Child, Preschool; Epiglottis; Humans; Intellectual Disab

2001
Optic nerve coloboma, Dandy-Walker malformation, microglossia, tongue hamartomata, cleft palate and apneic spells: an existing oral-facial-digital syndrome or a new variant?
    Clinical dysmorphology, 2002, Volume: 11, Issue:1

    Topics: Abnormalities, Multiple; Apnea; Cleft Palate; Coloboma; Dandy-Walker Syndrome; Fatal Outcome; Female

2002
Cerebro-costo-mandibular syndrome: long term follow-up of a patient and review of the literature.
    AJR. American journal of roentgenology, 1976, Volume: 126, Issue:6

    Topics: Abnormalities, Multiple; Apnea; Child, Preschool; Cleft Palate; Follow-Up Studies; Gastrostomy; Huma

1976
Optic nerve hypoplasia with hypopituitarism. Septo-optic dysplasia with hypopituitarism.
    American journal of diseases of children (1960), 1975, Volume: 129, Issue:2

    Topics: Abnormalities, Multiple; Age Factors; Apnea; Blood Glucose; Brain; Child, Preschool; Diabetes Insipi

1975
Differential diagnosis of syndromes with abnormal respiration (tachypnea-apnea).
    Brain & development, 1987, Volume: 9, Issue:5

    Topics: Abnormalities, Multiple; Apnea; Brain Diseases; Dandy-Walker Syndrome; Diagnosis, Differential; Fema

1987
[Tracheomalacia in infants].
    Archives francaises de pediatrie, 1969, Volume: 26, Issue:5

    Topics: Abnormalities, Multiple; Aorta, Thoracic; Apnea; Child, Preschool; Dyspnea; Endoscopy; Female; Human

1969