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锁骨颅骨发育不全的临床与影像学见解:一例罕见病症的病例报告

Clinical and Radiological Insights of Cleidocranial Dysplasia: A Case Report of a Rare Medical Condition.

作者信息

Gowda Venkatesha Ramachandra Reddy, Rajaram Mohan Karthik, Aravind Mirnalini, Sridharrao Vasu, Rajalingam Sindhuja

机构信息

Department of Oral Medicine and Radiology, Vinayaka Mission's Sankarachariyar Dental College, Vinayaka Mission's Research Foundation (Deemed to be University), Salem, IND.

出版信息

Cureus. 2024 Jul 13;16(7):e64456. doi: 10.7759/cureus.64456. eCollection 2024 Jul.

DOI:10.7759/cureus.64456
PMID:39139310
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11319796/
Abstract

Cleidocranial dysplasia (CCD) is a rare, congenital disorder characterized by a unique constellation of skeletal and dental abnormalities. The imaging findings, combined with clinical examination, help establish a definitive diagnosis. Understanding the broad spectrum of manifestations in CCD is essential for effective management and treatment. This case report aims to provide a comprehensive overview of a 25-year-old male patient with CCD, highlighting the genetic etiologies, clinical presentation, radiological findings, and a review of current literature to enhance understanding and awareness of this rare condition.

摘要

锁骨颅骨发育不全(CCD)是一种罕见的先天性疾病,其特征是一系列独特的骨骼和牙齿异常。影像学检查结果结合临床检查有助于明确诊断。了解CCD广泛的临床表现对于有效管理和治疗至关重要。本病例报告旨在全面概述一名25岁患有CCD的男性患者,重点介绍其遗传病因、临床表现、影像学检查结果,并对当前文献进行综述,以增进对这种罕见疾病的理解和认识。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0dea/11319796/3d45049da2be/cureus-0016-00000064456-i05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0dea/11319796/47ac58b55d34/cureus-0016-00000064456-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0dea/11319796/bb8a5ef7364f/cureus-0016-00000064456-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0dea/11319796/09e67a6b3ff4/cureus-0016-00000064456-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0dea/11319796/71914c34cc75/cureus-0016-00000064456-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0dea/11319796/3d45049da2be/cureus-0016-00000064456-i05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0dea/11319796/47ac58b55d34/cureus-0016-00000064456-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0dea/11319796/bb8a5ef7364f/cureus-0016-00000064456-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0dea/11319796/09e67a6b3ff4/cureus-0016-00000064456-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0dea/11319796/71914c34cc75/cureus-0016-00000064456-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0dea/11319796/3d45049da2be/cureus-0016-00000064456-i05.jpg

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Heliyon. 2024 Apr 17;10(9):e29816. doi: 10.1016/j.heliyon.2024.e29816. eCollection 2024 May 15.
3
New Genetic Variants of in Mexican Families Cause Cleidocranial Dysplasia.
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Biology (Basel). 2024 Mar 8;13(3):173. doi: 10.3390/biology13030173.
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Cureus. 2024 Feb 14;16(2):e54161. doi: 10.7759/cureus.54161. eCollection 2024 Feb.
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