Familial imperforate anus

Inheritance of familial congenital isolated anorectal malformations: Case report and review

“…In those defined syndromic cases, the recurrence risk for ARM lies within the recurrence risk for the specific syndrome, and genetic counseling can be made accordingly. Naveh and Friedman [1976] and Soussou et al [1974] reported families with low ARM associated with other anomalies such as renal, cardiovascular, and limb defects. The fact that the healthy parents in both reports were consanguineous suggests autosomal-recessive inheritance.…”

“…Various forms of inheritance were proposed for familial ARM, including autosomal-dominant [Schwoebel et al, 1984;Manny et al, 1973;Reid and Turner, 1976;Suckling, 1949], autosomal-recessive [Winkler and Weinstein, 1970;Naveh and Friedman, 1976], Xlinked [Weinstein, 1965], and multifactorial [Soussou et al, 1974;Schwoebel et al, 1984;Boocock and Donnai, 1987]. Only a few case reports of hereditary isolated ARM exist.…”