Common primary fibroblastic growth factor receptor-related craniosynostosis syndromes: A pictorial review
نویسندگان
چکیده
منابع مشابه
Fibroblast Growth Factor Receptor 2 (FGFR2) Mutation Related Syndromic Craniosynostosis
Craniosynostosis results from the premature fusion of cranial sutures, with an incidence of 1 in 2,100-2,500 live births. The majority of cases are non-syndromic and involve single suture fusion, whereas syndromic cases often involve complex multiple suture fusion. The fibroblast growth factor receptor 2 (FGFR2) gene is perhaps the most extensively studied gene that is mutated in various cranio...
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متن کاملGenetic Syndromes Associated with Craniosynostosis
Craniosynostosis is defined as the premature fusion of one or more of the cranial sutures. It leads not only to secondary distortion of skull shape but to various complications including neurologic, ophthalmic and respiratory dysfunction. Craniosynostosis is very heterogeneous in terms of its causes, presentation, and management. Both environmental factors and genetic factors are associated wit...
متن کاملHeterozygous P250L mutation of fibroblast growth factor receptor 3 in a case of isolated craniosynostosis.
Craniosynostoses are caused by premature fusion of one or more sutures of the infant’s skull with an incidence between 1:1000 and 1:10 000. Isolated and syndromic forms can be differentiated and are involved in over 150 genetic disorders. Syndromic forms tend to be inherited and include variable other malformations of the extremities, the backbone, and the face. Isolated forms of craniosynostos...
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ژورنال
عنوان ژورنال: Journal of Pediatric Neurosciences
سال: 2010
ISSN: 1817-1745
DOI: 10.4103/1817-1745.66685