Familial omphalocele: Considerations in genetic counseling

P. G. Pryde, A. Greb, N. B. Isada, M. B. Johnson, M. Klein, M. I. Evans

Research output: Contribution to journalArticlepeer-review

20 Scopus citations

Abstract

Nonsyndromal omphalocele is generally regarded as a sporadic malformation. Recurrence risk is considered negligible. We report on a patient in whom 5 consecutive pregnancies (by 2 separate nonconsanguineous partners) were complicated by omphalocele as an isolated defect. Neither the patient nor her partners had history of relatives with omphalocele, although the patient's brother and his son had large umbilical hernias requiring repair in infancy. Some familial cases of nonsyndromal omphalocele have been previously reported; most such pedigrees suggest vertical transmission, although there are a few cases with only a single generation involved. In our case, the multigenerational finding of ventral wall hernias makes an autosomal dominant mechanism with variable expressivity a tenable explanation. The collected instances of familial nonsyndromal omphalocele emphasize omphalocele heterogeneity and caution in counseling recurrence risks.

Original languageEnglish
Pages (from-to)624-627
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume44
Issue number5
DOIs
StatePublished - 1992
Externally publishedYes

Keywords

  • autosomal dominant inheritance
  • familial omphalocele
  • genetic counseling
  • omphalocele
  • ventral wall defects

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