Diverse Clinical and Genetic Aspects of Craniofrontonasal Syndrome

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 ge...

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Published in	Pediatric neurology Vol. 44; no. 2; pp. 83 - 87
Main Authors	Zafeiriou, Dimitrios I., Pavlidou, Efterpi L., Vargìami, Euthymia
Format	Journal Article
Language	English
Published	New York, NY Elsevier Inc 01.02.2011 Elsevier
Subjects	Animals Biological and medical sciences Craniofacial Abnormalities - diagnosis Craniofacial Abnormalities - genetics Female Genotype Humans Male Malformations of the nervous system Medical sciences Mutation - genetics Neurology Pediatrics Phenotype Nervous system diseases Crâniofrontonasal syndrome Complex syndrome Malformation Genetic disease
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ISSN	0887-8994 1873-5150 1873-5150
DOI	10.1016/j.pediatrneurol.2010.10.012

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Summary:	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.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 ObjectType-Review-3 content type line 23 ObjectType-Article-2 ObjectType-Feature-1
ISSN:	0887-8994 1873-5150 1873-5150
DOI:	10.1016/j.pediatrneurol.2010.10.012