Omphalocele in three generations with autosomal dominant transmission.
نویسندگان
چکیده
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.
منابع مشابه
Familial omphalocele.
An omphalocele is an extrusion of the intestine and other abdominal contents through the umbilical ring. The prevalence rate varies with the methods of ascertainment. McKeown et al,1 in Birmingham in 1941-1951, found a prevalence rate of 1 in 3,200 liveand stillbirths, and in 1982, in Northern Ireland, the figure was 1 in 2,000 liveand stillbirths.2 It is usually sporadic, and familial occurren...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 39 3 شماره
صفحات -
تاریخ انتشار 2002