Suppr超能文献

锁骨颅骨发育不全:一例罕见病例报告。

Cleidocranial Dysplasia: A Rare Case Report.

作者信息

Dhobley Akshay A, Thombre Aparna V, Ghatage Dipak, Patil Ranu Ingole

机构信息

Department of Oral Pathology and Microbiology, Government Dental College and Hospital, Nagpur, Maharashtra, India.

Department of Dentistry, Indira Gandhi Government Medical College, Nagpur, Maharashtra, India.

出版信息

J Pharm Bioallied Sci. 2023 Jul;15(Suppl 2):S1335-S1337. doi: 10.4103/jpbs.jpbs_212_23. Epub 2023 Jul 11.

Abstract

Cleidocranial dysplasia (CCD) is a rare hereditary disease of unknown etiology which was previously known as cleidocranial dysostosis. It usually follows an autosomal dominant mode of transmission with no predilection of genre or ethnic group. It is caused by a mutation of RUNX2, characterized by generalized dysplasia of the bones and teeth. Affected individuals have short stature, atypical facial features, and skeletal anomalies affecting mainly the skull and clavicle. The dental manifestations are mainly delayed exfoliation of the primary teeth and delayed eruption of the permanent teeth, with multiple impacted supernumeraries, and the absence of cellular cementum. The frequency of this disorder is 1 per million individuals. Here we report a rare case of CCD in a 23 year old female patient having most of the characteristic features of this syndrome.

摘要

锁骨颅骨发育不全(CCD)是一种病因不明的罕见遗传性疾病,以前称为锁骨颅骨发育异常。它通常遵循常染色体显性遗传模式,无性别或种族倾向。它由RUNX2基因突变引起,其特征为骨骼和牙齿普遍发育异常。受影响个体身材矮小,面部特征不典型,骨骼异常主要影响颅骨和锁骨。牙齿表现主要为乳牙迟脱和恒牙迟萌,伴有多个埋伏多生牙,且无细胞性牙骨质。这种疾病的发病率为百万分之一。在此,我们报告一例23岁女性患者的罕见CCD病例,该患者具有该综合征的大多数特征。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/54d4/10485440/7ff5c5592f29/JPBS-15-1335-g001.jpg

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验