Familial incidence of congenital anorectal anomalies

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 r...

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Veröffentlicht in:	Journal of pediatric surgery 1984-04, Vol.19 (2), p.179-182
Hauptverfasser:	Schwoebel, Marcus G., Hirsig, Johannes, Schinzel, Albert, Stauffer, Urs G.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Anal Canal - abnormalities Anorectal anomalies Biological and medical sciences Child Child, Preschool Female Gastroenterology. Liver. Pancreas. Abdomen Genetics Humans Infant, Newborn Male Malformations Medical sciences Middle Aged multifactorial inheritance Pedigree Rectum - abnormalities Risk Stomach. Duodenum. Small intestine. Colon. Rectum. Anus
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Beschreibung
Zusammenfassung:	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.
ISSN:	0022-3468 1531-5037
DOI:	10.1016/S0022-3468(84)80444-3