[Clinico-genetic analysis of omphalocele].
The study of 302 cases of omphalocele in foetus and newborns revealed genetic heterogeneity of this congenital malformation. Multiple birth defects were found in 54.3% of probands, including 11% of cases (Wiedemann-Beckwith syndrome being neglected), diagnosed as syndromes with hereditary etiology. The spectrum of anomalies associated with omphalocele in non-classified complexes corresponds to that for caudal regression and cloaca extrophy syndromes. A positive syntropy index for these anomalies shows that these combinations are not coincidental. The increase of omphalocele incidence among relatives of probands with descending gradient, depending on relationship, is demonstrated, which testifies to multifactorial determination of some omphalocele cases. Empirical risk for sibs was 0.6 +/- 0.3% and the index of inheritance was 50.7 +/- 11.4%.
D000328:Adult; D002869:Chromosome Aberrations; D005260:Female; D005787:Gene Frequency; D006554:Hernia, Umbilical / Q000151:congenital / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation
Kliniko-geneticheskiĭ analiz omfalotsele.