Brachytelephalangic chondrodysplasia punctata: A difficult diagnosis

Developmental Biology

Stefano Bartoletti¹  Andrea Sanfilippo¹ 

关键词: CT;    ASD;   

DOI  :  10.2484/rcr.v5i1.308

学科分类：医学（综合）

来源: University of Washington * Department of Radiology

【 摘 要 】

We report on a child with the brachytelephalangic type of chondrodysplasia punctata, a very rare form of the disease. At birth, the patient was originally diagnosed with the Conradi-Hunermann type, a more common and severe type. A pediatric radiologist questioned the diagnosis and followed up with the patient, who is now three years old. Based on the clinical and radiographic findings, it was concluded that he had the brachytelephalangic type. This unique case demonstrates the necessity of communication among all health care personnel taking care of the patient. The diagnosis greatly affected the child’s future and education.

【 授权许可】

Unknown