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[Clinical and genetic characteristics of craniosynostosis]. / A craniosynostosis klinikai és genetikai jellemzoi.
Bessenyei, Beáta; Oláh, Eva.
Afiliação
  • Bessenyei B; Debreceni Egyetem, Általános Orvostudományi Kar Gyermekgyógyászati Intézet, Klinikai Genetikai Központ Debrecen Nagyerdei krt. 98. 4032.
  • Oláh E; Debreceni Egyetem, Általános Orvostudományi Kar Gyermekgyógyászati Intézet, Klinikai Genetikai Központ Debrecen Nagyerdei krt. 98. 4032.
Orv Hetil ; 155(9): 341-7, 2014 Mar 02.
Article em Hu | MEDLINE | ID: mdl-24566698
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.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Nucleares / Suturas Cranianas / Craniossinostoses / Doenças Raras / Receptor Tipo 2 de Fator de Crescimento de Fibroblastos / Proteína 1 Relacionada a Twist / Mutação Idioma: Hu Ano de publicação: 2014 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Nucleares / Suturas Cranianas / Craniossinostoses / Doenças Raras / Receptor Tipo 2 de Fator de Crescimento de Fibroblastos / Proteína 1 Relacionada a Twist / Mutação Idioma: Hu Ano de publicação: 2014 Tipo de documento: Article