Abstract |
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.
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Authors | Jacob Hogue, Suma Shankar, Hazel Perry, Reena Patel, Karin Vargervik, Anne Slavotinek |
Journal | American journal of medical genetics. Part A
(Am J Med Genet A)
Vol. 152A
Issue 10
Pg. 2574-7
(Oct 2010)
ISSN: 1552-4833 [Electronic] United States |
PMID | 20734337
(Publication Type: Journal Article)
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Copyright | Copyright © 2010 Wiley-Liss, Inc. |
Chemical References |
- EFNB1 protein, human
- Ephrin-B1
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Topics |
- Cesarean Section
- Child, Preschool
- Craniofacial Abnormalities
(genetics)
- Craniosynostoses
(genetics)
- Ephrin-B1
(genetics)
- Exons
(genetics)
- Female
- Hernia, Diaphragmatic
(genetics)
- Humans
- Infant
- Male
- Mutation
- Pregnancy
- Sequence Deletion
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