Anorectal malformations with sacral bony abnormalities

Abstract

SUMMARY A range of anorectal malformations with sacral bony abnormalities was found in members from three generations of two kindreds. The anorectal anomaly was low in all but one of the patients. Partial sacral agenesis was the main bony defect in one family, and meningomyelocele and spina bifida occulta were noted in the second. The inheritance pattern in these kinships is autosomal dominant. This may be a variant of caudal regression syndrome, which seems to be aetiologically heterogeneous.