Table 1 Phenotypic description of parents with isolated ARM
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 | – | – |