title: [Clinical and genetic characteristics of craniosynostosis].
abstract: Craniosynostosis is caused by premature fusion of one or more cranial sutures leading to deformity of the cranium. Depending on the type and number of the sutures involved and the order of their fusion, different forms of deformities may develop. Two main types of craniosynostosis can be distinguished: non-syndromic (isolated) and syndromic forms. In the latter group the cranial deformity is usually associated with dysmorphic features, limb anomalies and other symptoms while in non-syndromic form the cranial deformity can be seen only. The type and severity of associated anomalies in the syndromic form are different. Early fusion of sutures can be caused by both environmental and genetic factors. In the present paper the authors aim to review the clinical features and genetic background of craniosynostosis focusing on some common syndromes.
authors.affiliation: Debreceni Egyetem, Általános Orvostudományi Kar Gyermekgyógyászati Intézet, Klinikai Genetikai Központ Debrecen Nagyerdei krt. 98. 4032.
authors.forename: Beáta
authors.initials: B
authors.lastname: Bessenyei
authors.affiliation: Debreceni Egyetem, Általános Orvostudományi Kar Gyermekgyógyászati Intézet, Klinikai Genetikai Központ Debrecen Nagyerdei krt. 98. 4032.
authors.forename: Eva
authors.initials: E
authors.lastname: Oláh
mesh_terms: D000168:Acrocephalosyndactylia / Q000175:diagnosis / Q000235:genetics; D003393:Cranial Sutures / Q000473:pathology*; D003398:Craniosynostoses / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D006801:Humans; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D035583:Rare Diseases / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics*; D013577:Syndrome; D051879:Twist-Related Protein 1 / Q000235:genetics*
chemical_list: D009687:Nuclear Proteins; C103173:TWIST1 protein, human; D051879:Twist-Related Protein 1; C496353:FGFR2 protein, human; D051497:Receptor, Fibroblast Growth Factor, Type 2
keywords: TWIST1; craniosynostosis; fibroblast growth factor receptors; fibroblastnövekedési faktor receptorok