Familial congenital diaphragmatic hernia is an autosomal recessive variant.
Forty families that have had more than one sibling with a congenital diaphragmatic hernia have been identified. The 85 children among the 40 families describe a subset of congenital diaphragmatic hernia displaying an autosomal recessive inheritance mode. The chance of a diaphragmatic hernia among siblings within this subset is 25%.
Hitch
D C
DC
Department of Surgery, Oklahoma Children's Memorial Hospital, University of Oklahoma, Oklahoma City.
Carson
J A
JA
Smith
E I
EI
Sarale
D C
DC
Rennert
O M
OM
D015331:Cohort Studies; D000013:Congenital Abnormalities / Q000453:epidemiology / Q000235:genetics; D004200:Diseases in Twins; D005260:Female; D005808:Genes, Recessive; D006548:Hernia, Diaphragmatic / Q000453:epidemiology / Q000235:genetics; D065630:Hernias, Diaphragmatic, Congenital; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree