Abstract
One hundred and sixty nine patients with anorectal malformation were studied: there were 108 boys, 60 girls, and one case of intersex. Low malformations were more common in both sexes. Over half the subjects had associated malformations. These were more common in the group with high malformations. There was no difference between the sexes in this respect. A family history of similar malformation was found in 15 cases (9%). Where anorectal malformation was the only abnormality in the family an autosomal dominant mode of inheritance was likely, except in one case where there was consanguinity. Where there were associated malformations no single mode of inheritance emerged. Two families with probably hitherto unrecognised recessive syndromes are described. In most cases of anorectal malformation the recurrence risk is low. Multiple associated malformations may indicate recessive inheritance and subsequent pregnancies should be regarded as high risk and full antenatal investigative facilities provided.
Full text
PDF
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- BRADHAM R. R. Imperforate anus; report of 130 cases. Surgery. 1958 Sep;44(3):578–584. [PubMed] [Google Scholar]
- GOUGH M. H. Congenital abnormalities of the anus and rectum. Arch Dis Child. 1961 Apr;36:146–151. doi: 10.1136/adc.36.186.146. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Keller M. A., Jones K. L., Nyhan W. L., Francke U., Dixson B. A new syndrome of mental deficiency with craniofacial, limb, and anal abnormalities. J Pediatr. 1976 Apr;88(4 Pt 1):589–591. doi: 10.1016/s0022-3476(76)80012-1. [DOI] [PubMed] [Google Scholar]
- PARTRIDGE J. P., GOUGH M. H. Congenital abnormalities of the anus and rectum. Br J Surg. 1961 Jul;49:37–50. doi: 10.1002/bjs.18004921310. [DOI] [PubMed] [Google Scholar]
- Pinsky L. The syndromology of anorectal malformation (atresia, stenosis, ectopia). Am J Med Genet. 1978;1(4):461–474. doi: 10.1002/ajmg.1320010408. [DOI] [PubMed] [Google Scholar]
- Reid I. S., Turner G. Familial and abnormality. J Pediatr. 1976 Jun;88(6):992–994. doi: 10.1016/s0022-3476(76)81061-x. [DOI] [PubMed] [Google Scholar]
- Soussou I., Der Kaloustian V., Slim M. Familial imperforate anus: Report of a family. Dis Colon Rectum. 1974 Jul-Aug;17(4):562–564. doi: 10.1007/BF02587037. [DOI] [PubMed] [Google Scholar]
- Townes P. L., Brocks E. R. Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies. J Pediatr. 1972 Aug;81(2):321–326. doi: 10.1016/s0022-3476(72)80302-0. [DOI] [PubMed] [Google Scholar]
- VANGELDER D. W., KLOEPFER H. W. Familial anorectal anomalies. Pediatrics. 1961 Feb;27:334–336. [PubMed] [Google Scholar]
- WEINSTEIN E. D. SEX-LINKED IMPERFORATE ANUS. Pediatrics. 1965 Apr;35:715–718. [PubMed] [Google Scholar]