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Familial caudal dysgenesis: evidence for a major dominant gene
1Department of Pediatrics, University of Calgary, Alberta, Canada.
Clinical Genetics
|September 1, 1990
Abstract:
Four sibs with varying degrees of caudal dysgenesis are described. Case 1 showed aberrant umbilical cord vasculature with a single umbilical artery near the placental insertion. Cases 2 and 3 showed full sirenomelia, one with a complex congenital heart defect. Case 4 had an imperforate anus and an excessively long umbilical cord. The father's half-sib had an imperforate anus, rectovaginal fistula and genitourinary anomalies. A dominant gene with reduced penetrance is likely.