Journal
PEDIATRIC NEUROLOGY
Volume 44, Issue 2, Pages 83-87Publisher
ELSEVIER SCIENCE INC
DOI: 10.1016/j.pediatrneurol.2010.10.012
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Craniofrontonasal syndrome is characterized by coronal craniosynostosis, hypertelorism, telecanthus, a broad grooved nasal tip, dental anomalies, mild syndactyly, and broad thumbs. It involves an X-linked malformation syndrome with a variable phenotype that is caused by mutations in the ephrin-B1 gene. Detailed phenotypic analysis indicates that females are more severely affected than males, a highly unusual characteristic for an X-linked disorder. We review the literature on this genetic paradox, and discuss the pattern of inheritance and genetic counseling. (C) 2011 Elsevier Inc. All rights reserved.
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