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[颅缝早闭的临床与遗传学特征]

[Clinical and genetic characteristics of craniosynostosis].

作者信息

Bessenyei Beáta, Oláh Eva

机构信息

Debreceni Egyetem, Általános Orvostudományi Kar Gyermekgyógyászati Intézet, Klinikai Genetikai Központ Debrecen Nagyerdei krt. 98. 4032.

出版信息

Orv Hetil. 2014 Mar 2;155(9):341-7. doi: 10.1556/OH.2014.29821.

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.

摘要

颅缝早闭是由一条或多条颅缝过早融合导致颅骨畸形引起的。根据受累颅缝的类型、数量及其融合顺序,可能会出现不同形式的畸形。颅缝早闭主要可分为两种类型:非综合征型(孤立型)和综合征型。在后一组中,颅骨畸形通常与畸形特征、肢体异常及其他症状相关,而在非综合征型中,仅可见颅骨畸形。综合征型相关异常的类型和严重程度各不相同。颅缝过早融合可能由环境因素和遗传因素共同导致。在本文中,作者旨在回顾颅缝早闭的临床特征和遗传背景,重点关注一些常见综合征。

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