Diverse clinical and genetic aspects of craniofrontonasal syndrome.
Τίτλος | Diverse clinical and genetic aspects of craniofrontonasal syndrome. |
Publication Type | Journal Article |
Year of Publication | 2011 |
Authors | Zafeiriou, D. I., Pavlidou E. L., & Vargiami E. |
Journal | Pediatr Neurol |
Volume | 44 |
Issue | 2 |
Pagination | 83-7 |
Date Published | 2011 Feb |
ISSN | 1873-5150 |
Λέξεις κλειδιά | Animals, Craniofacial Abnormalities, Female, Genotype, Humans, Male, Mutation, Phenotype |
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. |
DOI | 10.1016/j.pediatrneurol.2010.10.012 |
Alternate Journal | Pediatr. Neurol. |
PubMed ID | 21215906 |