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软骨外胚层发育不良:一种罕见综合征。

Chondroectodermal dysplasia: a rare syndrome.

作者信息

Tahririan Dana, Eshghi Alireza, Givehchian Pirooz, Tahririan Mohammad Ali

机构信息

Resident, Department of Pediatric Dentistry, Faculty of Dentistry, Isfahan University of Medical Sciences, Isfahan, Iran.

Associate Professor of Pediatric Dentistry, Isfahan University of Medical Sciences, Isfahan, Iran.

出版信息

J Dent (Tehran). 2014 May;11(3):361-4. Epub 2014 May 31.

Abstract

Chondroectodermal dysplasia (Ellis-Van Creveld syndrome) is a rare autosomal recessive congenital abnormality. This syndrome is characterized by a spectrum of clinical findings, among which chondrodystrophy, polydactyly, ectodermal dysplasia, and congenital cardiac anomalies are the most common. It is imperative to not overlook the cardiac complications in patients with this syndrome during dental procedures. The case presented here, although quite rare, was detected under normal conditions and can be alarming for dental care providers. Clinical reports outline the classical and unusual oral and dental manifestations, which help health care providers diagnose chondroectodermal dysplasia, and refer patients with this syndrome to appropriate health care professionals to receive treatment to prevent further cardiac complications and bone deformities.

摘要

软骨外胚层发育不良(埃利斯-范克里弗德综合征)是一种罕见的常染色体隐性先天性异常。该综合征的特征是一系列临床症状,其中软骨发育不良、多指(趾)畸形、外胚层发育不良和先天性心脏异常最为常见。在牙科手术过程中,绝不能忽视患有该综合征患者的心脏并发症。此处呈现的病例虽然相当罕见,但却是在正常情况下被发现的,可能会给牙科护理人员敲响警钟。临床报告概述了典型和不寻常的口腔及牙齿表现,这有助于医疗保健人员诊断软骨外胚层发育不良,并将患有该综合征的患者转介给合适的医疗专业人员进行治疗,以预防进一步的心脏并发症和骨骼畸形。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/107c/4290765/28a3b03acf8e/jod-11-361f1.jpg

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