Diverse clinical and genetic aspects of craniofrontonasal syndrome.

Abstract

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.

• Authors: Dimitrios I Zafeiriou, Efterpi L Pavlidou, Euthymia Vargìami
• Journal: Pediatric neurology (Pediatr Neurol) Vol. 44 Issue 2 Pg. 83-7 (Feb 2011) ISSN: 1873-5150 [Electronic] United States
• PMID: 21215906 (Publication Type: Journal Article, Review)
• Copyright: Copyright © 2011 Elsevier Inc. All rights reserved.

Topics

• Animals
• Craniofacial Abnormalities (diagnosis, genetics)
• Female
• Genotype
• Humans
• Male
• Mutation (genetics)
• Phenotype