title: Congenital diaphragmatic hernia with probable autosomal recessive inheritance in an extended consanguineous Pakistani pedigree.
abstract: 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.
authors.affiliation: Neonatal Unit, Birmingham Women's Hospital, Edgbaston, Birmingham, UK.
authors.forename: S J
authors.initials: SJ
authors.lastname: Mitchell
authors.forename: T
authors.initials: T
authors.lastname: Cole
authors.forename: D H
authors.initials: DH
authors.lastname: Redford
mesh_terms: 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