Abstract |
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.
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Authors | Chih-Ping Chen |
Journal | Taiwanese journal of obstetrics & gynecology
(Taiwan J Obstet Gynecol)
Vol. 46
Issue 2
Pg. 111-20
(Jun 2007)
ISSN: 1875-6263 [Electronic] China (Republic : 1949- ) |
PMID | 17638618
(Publication Type: Journal Article, Review)
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Topics |
- Abnormalities, Multiple
(diagnosis, genetics)
- Hernia, Diaphragmatic
(genetics)
- Hernia, Umbilical
(etiology)
- Hernias, Diaphragmatic, Congenital
- Humans
- Neural Tube Defects
(genetics)
- Syndrome
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