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Apert 综合征:一种罕见的颅面发育障碍。

Apert's syndrome: A rare craniofacial disorder.

机构信息

Department of Oral Medicine and Radiology, Nair Hospital Dental College, Mumbai, Maharashtra, India.

出版信息

J Indian Soc Pedod Prev Dent. 2020 Oct-Dec;38(4):430-433. doi: 10.4103/JISPPD.JISPPD_434_20.

Abstract

Apert's syndrome (AS) which is a rare congenital disorder is a form of acrocephalosyndactyly. This syndrome is characterized by craniosynostosis, midface hypoplasia, and syndactyly of hands and feet. We report a case of 13-year-old boy in India presenting features of AS such as exophthalmos, hypertelorism, strabismus, steep forehead, parrot beak nose, depressed nasal bridge, and retruded middle third of the face. The purpose of this report is to present a case of AS by highlighting the craniofacial characteristics.

摘要

阿佩尔氏综合征(AS)是一种罕见的先天性疾病,是一种颅面骨发育不全综合征。该综合征的特征为颅缝早闭、面中部发育不全和手足并指(趾)畸形。我们报告了印度 13 岁男孩的病例,其表现出 AS 的特征,如眼球突出、眼距过宽、斜视、额头陡峭、鹦鹉嘴鼻、鼻梁凹陷和中面部后缩。本报告的目的是通过突出颅面特征来介绍 AS 的病例。

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