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Goldenhar综合征——病例系列综述

Goldenhar syndrome - review with case series.

作者信息

Ashokan C Seethalakshmi, Sreenivasan Arathi, Saraswathy Gopal K

机构信息

Senior Lecturer, Department of Oral Medicine and Radiology, Chettinad Dental College , Chennai, India .

Senior Lecturer, Department of Oral Medicine and Radiology, Saveetha Dental College , Chennai, India .

出版信息

J Clin Diagn Res. 2014 Apr;8(4):ZD17-9. doi: 10.7860/JCDR/2014/7926.4260. Epub 2014 Apr 15.

Abstract

Goldenhar's syndrome is a rare condition which was described initially in the early 1950s. It is characterized by a combination of anomalies: dermal epibulbar cysts, auricular appendices and malformations of the ears. In 1963, Gorlin suggested the name, oculo-auriculo-vertebral (OAV) dysplasia for this condition and he also included vertebral anomalies as signs of this syndrome. The aetiology of this rare disease has not been fully understood, as it has shown itself to be variable genetically and to be caused due to unclear reasons. Here, we are reporting two cases of Goldenhar's syndrome, where almost all the classical signs of this rare condition were present.

摘要

戈尔登哈综合征是一种罕见病症,最初于20世纪50年代初被描述。其特征为多种异常的组合:皮肤性眼球囊肿、耳附件及耳部畸形。1963年,戈林建议将此病症命名为眼耳脊椎(OAV)发育异常,他还将脊椎异常纳入该综合征的体征。这种罕见疾病的病因尚未完全明确,因为其在遗传上表现出多样性且病因不明。在此,我们报告两例戈尔登哈综合征病例,其中几乎呈现出这种罕见病症的所有典型体征。

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Goldenhar syndrome - review with case series.Goldenhar综合征——病例系列综述
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本文引用的文献

1
GOLDEN-HAR SYNDROME.戈尔登 - 哈综合征。
Med J Armed Forces India. 2000 Jul;56(3):231-232. doi: 10.1016/S0377-1237(17)30174-0. Epub 2017 Jun 10.
2
Goldenhar syndrome.
Indian J Dent Res. 2013 Jan-Feb;24(1):149. doi: 10.4103/0970-9290.114952.
3
Goldenhar syndrome: a report of 3 cases.戈尔登哈综合征:3例报告。
Indian J Dermatol. 2013 May;58(3):244. doi: 10.4103/0019-5154.110876.
4
Hemifacial microsomia: from gestation to childhood.半侧颜面短小畸形:从孕期到儿童期
J Craniofac Surg. 2009 Mar;20 Suppl 1(Suppl 1):664-9. doi: 10.1097/SCS.0b013e318193d5d5.
5
Goldenhar syndrome with unusual features.具有不寻常特征的Goldenhar综合征。
Indian J Dermatol Venereol Leprol. 2008 May-Jun;74(3):254-6. doi: 10.4103/0378-6323.41374.
8
OCULOAURICULOVERTEBRAL DYSPLASIA.眼耳脊椎发育不良
J Pediatr. 1963 Nov;63:991-9. doi: 10.1016/s0022-3476(63)80233-4.

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