Congenital diaphragmatic hernia with familial occurrence in a Taiwanese pedigree.
نویسندگان
چکیده
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.
منابع مشابه
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.
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ورودعنوان ژورنال:
- Journal of the Chinese Medical Association : JCMA
دوره 68 10 شماره
صفحات -
تاریخ انتشار 2005