Familial omphalocele: considerations in genetic counseling.
Am J Med Genet
; 44(5): 624-7, 1992 Nov 15.
Article
en En
| MEDLINE
| ID: mdl-1481822
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.
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Bases de datos:
MEDLINE
Asunto principal:
Asesoramiento Genético
/
Hernia Umbilical
Tipo de estudio:
Diagnostic_studies
Límite:
Female
/
Humans
/
Newborn
/
Pregnancy
Idioma:
En
Revista:
Am J Med Genet
Año:
1992
Tipo del documento:
Article