Anorectal Anomalies
Clinical Features
Kaijser and Malmstrom-Groth (1957) described imperforate anus with rectovaginal fistula in a mother and her 2 daughters.
Van Gelder and Kloepfer (1961) observed 4 sibs with anorectal stenosis or imperforate anus. Although the parents were unaffected, the authors pointed out that failure of expression of a recent dominant mutation, carried by one parent, is a possibility.
From the findings of Cozzi and Wilkinson (1968), anal stenosis seems particularly liable to familial occurrence, probably as an irregular dominant.
Anorectal malformation was combined with nephritis and nerve deafness, hallmarks of Alport syndrome, in a dominant pedigree pattern in the family reported by Lowe et al. (1983).
Landau et al. (1997) reported 4 members of a 3-generation family with congenital low anorectal malformations. These included imperforate anus, rectoperineal fistula, imperforate anus with perianal fistula, and congenital anal stenosis.
InheritanceIn the family with congenital low anorectal malformations reported by Landau et al. (1997), an autosomal dominant pattern of inheritance was observed, with possible nonpenetrance in one of the great-grandparents of the proband.