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Familial incidence of congenital anorectal anomalies


Schwoebel, Marcus G; Hirsig, Johannes; Schinzel, Albert; Stauffer, Urs G (1984). Familial incidence of congenital anorectal anomalies. Journal of Pediatric Surgery, 19(2):179-182.

Abstract

We describe two families with pedigrees over three and two generations with nine members affected with anorectal malformations. Both pedigrees are compatible with autosomal dominant inheritance with variable penetrance and expression or with multifactorial inheritance with a high genetic load. The recurrence risk is thought to be in the range of 10% to 20% for first degree relatives of affected members.

Abstract

We describe two families with pedigrees over three and two generations with nine members affected with anorectal malformations. Both pedigrees are compatible with autosomal dominant inheritance with variable penetrance and expression or with multifactorial inheritance with a high genetic load. The recurrence risk is thought to be in the range of 10% to 20% for first degree relatives of affected members.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
04 Faculty of Medicine > University Children's Hospital Zurich > Clinic for Surgery
Dewey Decimal Classification:610 Medicine & health
570 Life sciences; biology
Scopus Subject Areas:Health Sciences > Surgery
Health Sciences > Pediatrics, Perinatology and Child Health
Uncontrolled Keywords:General Medicine, Pediatrics, Perinatology and Child Health, Surgery, Genetics, Genetics (clinical), Anorectal anomalies, multifactorial inheritance
Scope:Contributions to practice (applied research)
Language:English
Date:1 April 1984
Deposited On:04 Apr 2024 11:11
Last Modified:05 Apr 2024 20:00
Publisher:Elsevier
ISSN:0022-3468
OA Status:Closed
Publisher DOI:https://doi.org/10.1016/s0022-3468(84)80444-3
PubMed ID:6726575
Other Identification Number:Corpus ID: 377495