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阿佩尔综合征

Apert syndrome.

作者信息

Kannan V P

机构信息

Department of Pedodontics, GDC, Calicut, India.

出版信息

J Indian Soc Pedod Prev Dent. 2010 Oct-Dec;28(4):322-5. doi: 10.4103/0970-4388.76169.

Abstract

Apert syndrome (acrocephalosyndactyly) is a rare developmental malformation characterized by craniosynostosis, mid-face hypoplasia, symmetrical syndactyly of hands and feet. The prodromal characteristics for the typical cranio-facial appearance are early craniosynostosis of the coronal suture, cranial base and agenesis of the sagittal suture. The purpose of this paper is to report a case of Apert syndrome with emphasis on craniofacial and oral features in an eighteen-month-old male child. The patient presented with several craniofacial deformities, including brachycephaly, midface hypoplasia, flat face, hypertelorism, ocular proptosis, downslanting palpebral fissures. Syndactylies with osseous fusion of the hands and feet were also observed. Intraoral findings included delayed eruption of teeth, high arched palate with pseudo cleft in the posterior one third.

摘要

阿佩尔综合征(尖头并指畸形)是一种罕见的发育畸形,其特征为颅缝早闭、面中部发育不全、手足对称性并指。典型颅面部外观的前驱特征是冠状缝、颅底早期颅缝早闭以及矢状缝发育不全。本文旨在报告一例阿佩尔综合征病例,重点关注一名18个月大男童的颅面部和口腔特征。该患者出现了多种颅面部畸形,包括短头畸形、面中部发育不全、面部扁平、眼距增宽、眼球突出、睑裂向下倾斜。还观察到手足并指且伴有骨质融合。口腔内检查发现牙齿萌出延迟、高拱腭且后三分之一处有假性腭裂。

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