PDF(Pubmed)
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：
锁骨发育不良（CCD）是一种罕见的，以独特的骨骼和牙齿异常为特征的先天性疾病。影像学检查结果,结合临床检查，帮助建立明确的诊断。了解CCD的广泛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岁男性CCD患者，突出遗传病因，临床表现,放射学发现，以及对当前文献的回顾，以增强对这种罕见疾病的理解和认识。
