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多指畸形性软骨发育不全:病例报告

Achondroplasia with Polydactyly: A Case Report.

作者信息

Frank Caroline, Shariff Sameeya, Pavani Muddepalle, Karthika Balasubramanian, Thathekalva Sridhar

机构信息

Intern, Department of Oral Medicine and Radiology, Priyadarshini Dental College and Hospital, Tiruvallur, Tamil Nadu, India.

Assistant Professor, Department of Oral Medicine and Radiology, Priyadarshini Dental College and Hospital, Tiruvallur, Tamil Nadu, India.

出版信息

J Clin Diagn Res. 2017 Mar;11(3):ZD14-ZD15. doi: 10.7860/JCDR/2017/24678.9477. Epub 2017 Mar 1.

Abstract

An eight-year-old girl child reported to the Department of Oral Medicine and Radiology with the chief complaint of unerupted permanent teeth for past two years. The child presented features like disproportionately short stature, rhizomelic shortening of arms and legs, long face, frontal bossing and saddle nose. Based on the findings of chest and spine radiographs and ultrasound the case was diagnosed as a rare bone disorder "Achondroplasia". This case also presents a unique feature of polydactyly. Polydactyly is a manifestation in clinical medicine because it can serve as an indicator for a plethora of congenital anamolies. This case gained dental interest because of its characteristic craniofacial features. This article highlights the peculiar manifestations of this anamoly.

摘要

一名八岁女童因过去两年来恒牙未萌出的主要诉求前往口腔医学与放射科就诊。该患儿表现出身材不成比例地矮小、四肢近端短小、长脸、前额突出和鞍鼻等特征。根据胸部和脊柱X光片及超声检查结果,该病例被诊断为一种罕见的骨骼疾病“软骨发育不全”。该病例还呈现出多指畸形这一独特特征。多指畸形在临床医学中是一种表现,因为它可作为多种先天性异常的一个指标。由于其特征性的颅面特征,该病例引起了牙科领域的关注。本文重点介绍了这种异常的特殊表现。

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Achondroplasia with Polydactyly: A Case Report.多指畸形性软骨发育不全:病例报告
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本文引用的文献

2
Optimal management of complications associated with achondroplasia.软骨发育不全相关并发症的最佳管理。
Appl Clin Genet. 2014 Jun 24;7:117-25. doi: 10.2147/TACG.S51485. eCollection 2014.
4
Achondroplasia and periodontal disease.软骨发育不全与牙周疾病。
J Indian Soc Periodontol. 2012 Jan;16(1):138-40. doi: 10.4103/0972-124X.94624.
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Oral findings in a typical case of achondroplasia.
J Int Med Res. 2003 May-Jun;31(3):236-8. doi: 10.1177/147323000303100311.

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