title: Congenital diaphragmatic hernia with familial occurrence in a Taiwanese pedigree.
abstract: Congenital diaphragmatic hernia (CDH) is a developmental defect that accounts for 8% of all major congenital anomalies and is associated with a high mortality rate despite optimal postnatal treatment. Its etiology is uncertain. We report a case of familial CDH in a Taiwanese family. We believe autosomal recessive inheritance is the possible genetic etiology of CDH in this family.
authors.affiliation: Graduate Institute of Medical Science, Tzu Chi University, Hualien, Taiwan, ROC. dah1003@yahoo.com.tw
authors.forename: Dah-Ching
authors.initials: DC
authors.lastname: Ding
authors.forename: Senzan
authors.initials: S
authors.lastname: Hsu
authors.forename: Ta-Wei
authors.initials: TW
authors.lastname: Chu
authors.forename: Wei-Hua
authors.initials: WH
authors.lastname: Chen
mesh_terms: D000328:Adult; D005260:Female; D005808:Genes, Recessive; D006548:Hernia, Diaphragmatic / Q000235:genetics*; D065630:Hernias, Diaphragmatic, Congenital; D006801:Humans; D010375:Pedigree; D011247:Pregnancy