Cassidy and Allanson's Management of Genetic Syndromes最新文献_第4页

Cassidy and Allanson's Management of Genetic Syndromes Pub Date : 2005-01-14 DOI: 10.1002/0471695998.MGS021

R. Gallagher, K. Kingham, H. Hoyme

{"title":"FETAL ANTICONVULSANT SYNDROME","authors":"R. Gallagher, K. Kingham, H. Hoyme","doi":"10.1002/0471695998.MGS021","DOIUrl":"https://doi.org/10.1002/0471695998.MGS021","url":null,"abstract":"Fetal anticonvulsant syndrome refers to the increased birth prevalence of major malformations and the characteristic pattern of minor anomalies identified in some children born to women who have taken antiepileptic drugs during pregnancy. The major malformations described most frequently are those common in the general population: congenital heart defects, cleft lip and/or cleft palate, and genitourinary abnormalities. There is an even greater birth prevalence of major malformations in children born to women taking two antiepileptic drugs, and the prevalence of major malformations continues to increase with each additional antiepileptic drug taken during pregnancy. Microcephaly or growth retardation may be observed, particularly when there has been exposure to multiple antiepileptic drugs. A characteristic pattern of minor anomalies may be observed, including midface and digital hypoplasia, and there is an increased incidence of hemorrhagic disease of the newborn in children exposed to phenytoin, carbamazepine, and phenobarbital., We discuss the evaluation and management of children exposed to antiepileptic drugs in utero. \u0000 \u0000 \u0000Keywords: \u0000 \u0000fetal anticonvulsant syndrome; \u0000anticonvulsant embryopathy; \u0000fetal hydantoin syndrome; \u0000fetal valproate syndrome; \u0000carbamazepine embryopathy","PeriodicalId":142022,"journal":{"name":"Cassidy and Allanson's Management of Genetic Syndromes","volume":"215 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2005-01-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"126993785","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

NEUROFIBROMATOSIS TYPE 1 1型神经纤维瘤病

Cassidy and Allanson's Management of Genetic Syndromes Pub Date : 2005-01-14 DOI: 10.1002/9780470893159.CH37

D. Viskochil

引用次数: 62

BARDET–BIEDL SYNDROME BARDET-BIEDL综合症

Cassidy and Allanson's Management of Genetic Syndromes Pub Date : 2005-01-14 DOI: 10.1002/0471695998.MGS009

A. Slavotinek

引用次数: 0

HEREDITARY HEMORRHAGIC TELANGIECTASIA 遗传性出血性毛细血管扩张症

Cassidy and Allanson's Management of Genetic Syndromes Pub Date : 2005-01-14 DOI: 10.1002/9780470893159.CH29

M. Porteous, J. Berg

引用次数: 0

TRISOMY 18 AND TRISOMY 13 SYNDROMES 18三体综合症和13三体综合症

Cassidy and Allanson's Management of Genetic Syndromes Pub Date : 2005-01-14 DOI: 10.1002/9780470893159.CH54

J. Carey

引用次数: 21

SMITH–MAGENIS SYNDROME SMITH-MAGENIS综合症

Cassidy and Allanson's Management of Genetic Syndromes Pub Date : 2005-01-14 DOI: 10.1002/0471695998.MGS043

Ann C M Smith, A. Gropman

{"title":"SMITH–MAGENIS SYNDROME","authors":"Ann C M Smith, A. Gropman","doi":"10.1002/0471695998.MGS043","DOIUrl":"https://doi.org/10.1002/0471695998.MGS043","url":null,"abstract":"Smith-Magenis syndrome is a multisystem, multiple congenital anomaly/mental retardation syndrome caused by an interstitial deletion of chromosome 17p11.2. Many cases have been identified worldwide from a diversity of ethnic groups. The diagnosis is based on the clinical recognition of a unique and complex pattern of physical, developmental, and behavioral features, many of which are subtle in early childhood, becoming more distinctive with advancing age. There is a characteristic craniofacial appearance with rather close-set, deep-set eyes under heavy brows, a square jaw, and an unusual full, everted upper lip. Speech delay with or without hearing loss is common. Ocular abnormalities are frequently found and short stature with failure to thrive is often seen. There are variable levels of intellectual handicap and the neurobehavioral phenotype includes sleep disturbance with an inverted circadian rhythm of melatonin, self-injurious behaviors, stereotypies, and sensory integration disorders. \u0000 \u0000 \u0000Keywords: \u0000 \u0000Smith-Magenis syndrome; \u0000microdeletion; \u0000interstitial deletion of chromosome 17p11.2; \u0000intellectual handicap; \u0000short stature; \u0000craniofacial dysmorphism; \u0000behavioral phenotype; \u0000self-injurious behavior; \u0000stereotypies","PeriodicalId":142022,"journal":{"name":"Cassidy and Allanson's Management of Genetic Syndromes","volume":"47 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2005-01-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"132811876","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 9