© 2002 Journal of Medical Genetics
SHORT REPORT
Omphalocele in three generations with autosomal dominant transmission
1 Section of Medical Genetics and Molecular Medicine, Children's Mercy Hospitals and Clinics and University of Missouri-Kansas City School of Medicine, Kansas City, Missouri, USA
2 Section of Cardiology, Children's Mercy Hospitals and Clinics and University of Missouri-Kansas City School of Medicine, Kansas City, Missouri, USA
3 Department of Pediatrics and Department of Surgery, Children's Mercy Hospitals and Clinics and University of Missouri-Kansas City School of Medicine, Kansas City, Missouri, USA
Correspondence to:
Correspondence to:
Dr M G Butler, Section of Medical Genetics and Molecular Medicine, Children's Mercy Hospitals and Clinics, Kansas City, MO 64108, USA;
mgbutler{at}cmh.edu
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.
Keywords: omphalocele; autosomal dominant; three generations
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