期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 152A, 期 10, 页码 2574-2577出版社
WILEY-LISS
DOI: 10.1002/ajmg.a.33596
关键词
craniofrontonasal syndrome; congenital diaphragmatic hernia; EFNB1
We report on the occurrence of congenital diaphragmatic hernia in a family with craniofrontonasal syndrome found to have a previously unreported mutation in EFNB1. The female proband presented with hypertelorism, telecanthus, bifid nasal tip, widow's peak, frontal bossing, and a widened metopic suture. Her father was noted to have hypertelorism, telecanthus, widow's peak, and a history of pectus carinatum. He was found to have a previously unreported mutation in exon 5 of EFNB1 predicted to cause premature protein truncation. The parents of the proband previously had a female fetus with congenital diaphragmatic hernia. The occurrence of congenital diaphragmatic hernia, phenotypic differences between males and females, and utility of molecular testing in craniofrontonasal syndrome are demonstrated. (C) 2010 Wiley-Liss, Inc.
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