Familial caudal dysgenesis: evidence for a major dominant gene.
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.
Rudd
N L
NL
Department of Pediatrics, University of Calgary, Alberta, Canada.
Klimek
M L
ML
D000015:Abnormalities, Multiple / Q000235:genetics; D001006:Anus, Imperforate / Q000235:genetics*; D003241:Consanguinity; D004480:Ectromelia / Q000235:genetics*; D005260:Female; D005313:Fetal Death / Q000235:genetics; D005799:Genes, Dominant; D006801:Humans; D007231:Infant, Newborn; D010375:Pedigree; D013577:Syndrome; D014469:Umbilical Arteries / Q000002:abnormalities*