Inheritance of familial congenital isolated anorectal malformations: case report and review.
We report on a 3-generation family with 4 members affected with congenital low anorectal malformations. The vertical segregation of the anomalies and the occurrence of affected males and females support autosomal-dominant inheritance, which was suggested previously for this type of congenital anomaly.
Landau
D
D
Department of Neonatology, Soroka Medical Center, Ben-Gurion University of the Negev, Beersheva, Israel.
Mordechai
J
J
Karplus
M
M
Carmi
R
R
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D001003:Anal Canal / Q000002:abnormalities*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D012007:Rectum / Q000002:abnormalities*