1.
J Med Genet
; 39(3): 184-5, 2002 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-11897819
RESUMO
We report a family with nine subjects over three generations affected with an omphalocele requiring surgical intervention within the first few days of life. Because of the vertical transmission and male to male inheritance in our family, we conclude that an autosomal dominant gene caused the omphalocele in the affected family members. The paternal great grandfather of the proband was not clinically affected but produced two children with omphaloceles with different spouses.