Congenital diaphragmatic hernia with familial occurrence in a Taiwanese pedigree.
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.
Ding
Dah-Ching
DC
Graduate Institute of Medical Science, Tzu Chi University, Hualien, Taiwan, ROC. dah1003@yahoo.com.tw
Hsu
Senzan
S
Chu
Ta-Wei
TW
Chen
Wei-Hua
WH
D000328:Adult; D005260:Female; D005808:Genes, Recessive; D006548:Hernia, Diaphragmatic / Q000235:genetics*; D065630:Hernias, Diaphragmatic, Congenital; D006801:Humans; D010375:Pedigree; D011247:Pregnancy