頁籤選單縮合
題 名 | Syndromes and Disorders Associated with Omphalocele (Ⅲ): Single Gene Disorders, Neural Tube Defects, Diaphragmatic Defects and Others |
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作 者 | Chen, Chih-ping; | 書刊名 | Taiwanese Journal of Obstetrics & Gynecology |
卷 期 | 46:2 2007.06[民96.06] |
頁 次 | 頁111-120 |
分類號 | 417.134 |
關鍵詞 | Congenital malformation; Diaphragmatic hernia; Genetics; Neural tube defect; Omphalocele; Single gene disorder; |
語 文 | 英文(English) |
英文摘要 | Omphalocele can be associated with single gene disorders, neural tube defects, diaphragmatic defects, fetal valproate syndrome, and syndromes of unknown etiology. This article provides a comprehensive review of omphalocele-related disorders: otopalatodigital syndrome type Ⅱ; Melnick-Needles syndrome; Rieger syndrome; neural tube defects; Meckel syndrome; Shprintzen-Goldberg omphalocele syndrome; lethal omphalocele-cleft palate syndrome; cerebro-costo-mandibular syndrome; fetal valproate syndrome; Marshall-Smith syndrome; fibrochondrogenesis; hydrolethalus syndrome; Fryns syndrome; omphalocele, diaphragmatic defects, radial anomalies and various internal malformations; diaphragmatic defects, limb deficiencies and ossification defects of skull; Donnai-Barrow syndrome; CHARGE syndrome; Goltz syndrome; Carpenter syndrome; Toriello-Carey syndrome; familial omphalocele; Cornelia de Lange syndrome; C syndrome; Elejalde syndrome; Malpuech syndrome; cervical ribs, Sprengel anomaly, anal atresia and urethral obstruction; hydrocephalus with associated malformations; Kennerknecht syndrome; lymphedema, atrial septal defect and facial changes; and craniosynostosismental retardation syndrome of Lin and Gettig. Perinatal identification of omphalocele should alert one to the possibility of omphalocele-related disorders and familial inheritance and prompt a thorough genetic counseling for these disorders. |
本系統中英文摘要資訊取自各篇刊載內容。