Skip to main content

Table 1 Phenotypic description of parents with isolated ARM

From: Epidemiologic analysis of families with isolated anorectal malformations suggests high prevalence of autosomal dominant inheritance

Family Affected parent Phenotype of parent Unaffected offspring Affected offspring Additionally affected family members
1 Father NS 2 (male, perineal fistula; male perineal fistula) One further relative in paternal family
2 Father NS 1 1 (male, perineal fistula)
3 Father Anal stenosis 1 (male, perineal fistula)
4 Father NS 1 (male, perineal fistula) Grandparents and the sister of the affected father had unspecified ARM
5 Mother Anterior ectopy 2 (male, perineal fistula; female, anterior ectopy)
6 Mother Perineal fistula 2 (female, perineal fistula; male, anal atresia without fistula and aganglionic blind-loop)
7 Mother Vestibular fistula 3 1 (female, vestibular fistula)
8 Mother Perineal fistula 2
  1. NS not specified