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Apert 综合征:颅面挑战及临床意义。

Apert syndrome: craniofacial challenges and clinical implications.

机构信息

Conservative Dentistry and Endodontics, King George Medical University, Lucknow, Uttar Pradesh, India.

Conservative Dentistry and Endodontics, King George Medical University, Lucknow, Uttar Pradesh, India

出版信息

BMJ Case Rep. 2024 Jul 16;17(7):e260724. doi: 10.1136/bcr-2024-260724.

Abstract

Apert syndrome is a rare acro-cephalo-syndactyly syndrome characterised by craniosynostosis, severe syndactyly of hands and feet, and dysmorphic facial features. It demonstrates autosomal dominant inheritance assigned to mutations in the fibroblast growth factor receptor gene, as a result of which signals are not received to produce necessary fibrous material necessary for normal cranial sutures. Deformities are generally cosmetic but can affect various functions such as hearing, visual abnormalities, swallowing, writing, etc, so a multidisciplinary approach is needed for their management.Presently described is a case of a male in his late adolescence who was medically diagnosed with Apert syndrome at birth. Physical appearance and dental examination of the patient included acrocephaly, prominent forehead, ocular hypertelorism, proptosis, short and broad nose, pseudo-prognathism, dental crowding and ectopia, maxillary hypoplasia, low hairline, webbed neck, pectus excavatum and severe bilateral syndactyly of hands and feet.

摘要

尖头并指(趾)综合征是一种罕见的颅面并指(趾)综合征,其特征为颅缝早闭、手和脚严重并指(趾)和面部畸形。它表现为常染色体显性遗传,归因于成纤维细胞生长因子受体基因突变,导致不能接收产生正常颅缝所需的必要纤维物质的信号。畸形通常是美容方面的,但可能影响各种功能,如听力、视觉异常、吞咽、书写等,因此需要采用多学科方法来进行管理。本文现介绍一名青少年男性患者,他在出生时被医学诊断为尖头并指(趾)综合征。患者的体格和牙科检查包括尖头、额突出、眼球突出、眼球突出、短而宽的鼻子、假性下颌前突、牙齿拥挤和异位、上颌发育不全、发际线低、颈蹼、漏斗胸和严重的双侧手和脚并指(趾)。

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