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J Med Genet 39:184-185 doi:10.1136/jmg.39.3.184
  • Short report

Omphalocele in three generations with autosomal dominant transmission

  1. S L Kanagawa1,
  2. M L Begleiter1,
  3. D J Ostlie3,
  4. G Holcomb3,
  5. W Drake2,
  6. M G Butler1
  1. 1Section 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. 2Section of Cardiology, Children's Mercy Hospitals and Clinics and University of Missouri-Kansas City School of Medicine, Kansas City, Missouri, USA
  3. 3Department 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
  1. 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
  • Accepted 8 November 2001
  • Revised 7 November 2001

Abstract

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.

Footnotes