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一种新综合征的报告:重点关注鉴别诊断以及埃利斯-范克里维尔德综合征、库里-霍尔综合征、肢端面部发育不全综合征和口面部指综合征的综述

Report of a new syndrome: focus on differential diagnosis and review of Ellis-van Creveld, Curry-Hall, acrofacial dysostosis, and orofacial digital syndromes.

作者信息

Ghosh Sujoy, Setty Suhas, Sivakumar A, Pai Keerthilatha M

机构信息

Department of Oral Medicine and Radiology, Manipal College of Dental Sciences, Manipal, Karnataka, India.

出版信息

Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2007 May;103(5):670-6. doi: 10.1016/j.tripleo.2006.02.028. Epub 2006 Aug 22.

Abstract

Ellis-van Creveld (EvC) and Curry-Hall (CH) syndromes are rare syndromes that occur due to mutations of genes mapped to the chromosome 4p16 region. Hence, they both have few features that are common. The dental literature describing the oral manifestations and etiology of both syndromes is scarce. We report a case of a 7-year-old girl who appeared with features that are common to both syndromes, as well as with other features such as reduced cranial base flexure and toes of equal length with skeletal changes that have not been mentioned or described in earlier reports. The patient possibly represents a new syndromic entity that has not been reported until now. Further, we present a review of various other similar syndromes, such as various types of orofacial digital (OFD) syndrome and acrofacial dysostosis.

摘要

埃利斯-范克里维尔德(EvC)综合征和库里-霍尔(CH)综合征是罕见综合征,由定位于4号染色体p16区域的基因突变引起。因此,它们共同的特征很少。描述这两种综合征口腔表现和病因的牙科文献很匮乏。我们报告了一例7岁女孩,她出现了这两种综合征的共同特征,以及其他特征,如颅底弯曲度降低和脚趾等长,伴有骨骼变化,这些在早期报告中未被提及或描述。该患者可能代表了一种至今尚未报道的新的综合征实体。此外,我们还对各种其他类似综合征进行了综述,如各种类型的口面指(OFD)综合征和肢端面部发育不全。

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