Congenital diaphragmatic hernia with probable autosomal recessive inheritance in an extended consanguineous Pakistani pedigree.
We report four cases of congenital diaphragmatic hernia occurring in two generations of a consanguineous Pakistani family. The affected subjects resembled no recognised genetic syndrome. This family provides further evidence for possible autosomal recessive inheritance of congenital diaphragmatic hernia in some cases.
Mitchell
S J
SJ
Neonatal Unit, Birmingham Women's Hospital, Edgbaston, Birmingham, UK.
Cole
T
T
Redford
D H
DH
D003241:Consanguinity; D005260:Female; D005313:Fetal Death; D005808:Genes, Recessive; D006548:Hernia, Diaphragmatic / Q000235:genetics*; D065630:Hernias, Diaphragmatic, Congenital; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010154:Pakistan; D010375:Pedigree