[Ano-rectal abnormalities and esophageal atresia; familial and epidemiological studies].
The authors estimate the frequency of anorectal malformations (0.30 p. 1,000) and oesophageal atresia (0.20 p. 1,000) and record an increase in the sex-ratio along with a high percentage of associated malformations. From the available data and a family study on 366 anorectal malformations and 327 oesophageal atresia, they suggest the possibility of a dominant autosomal inheritance with weak penetrance, in certain cases of anorectal malformations and of a polygenic heredity in oesophageal atresia. The findings do not allow to reassure the parents completely of the sporadic cases, since the recurrence risk is 1-2 p. 100.
D000015:Abnormalities, Multiple / Q000453:epidemiology*; D001006:Anus, Imperforate / Q000235:genetics*; D004933:Esophageal Atresia / Q000235:genetics*; D005260:Female; D005602:France; D006801:Humans; D008297:Male; D012007:Rectum / Q000002:abnormalities*; D012306:Risk; D012737:Sex Factors
Les malformations ano-rectales et l'atresie de l'oesophage; etude familiale et epidemiologique.