施密德干骺端软骨发育不良：放射学指导分子诊断的一个实例。

Schmid metaphyseal chondrodysplasia: an example of radiology guidance to molecular diagnosis.

作者信息

de França Marina, de Faria Soares Maria de Fátima, Luce Ana Luiza Pilla, Perrone Eduardo

机构信息

Department of Medical Genetics, Federal University of Sao Paulo, Sao Paulo, Brazil.

Department of Radiology, Federal University of Sao Paulo, Sao Paulo, Brazil.

出版信息

Radiol Case Rep. 2020 Oct 7;15(12):2554-2556. doi: 10.1016/j.radcr.2020.08.005. eCollection 2020 Dec.

DOI:10.1016/j.radcr.2020.08.005

PMID:33082897

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7553887/

Abstract

Schmid metaphyseal chondrodysplasia is a rare genetic cause of skeletal dysplasia. Patients usually present skeletal abnormalities but no major visceral malformations or intellectual disability. We report a case of a 2-year-old male patient with short stature, progressive and waddling gait. Radiographic findings were essential to guide investigation and molecular confirmation, allowing proper treatment and genetic counseling.

摘要

施密德干骺端软骨发育不良是骨骼发育异常的一种罕见遗传病因。患者通常表现出骨骼异常，但无重大内脏畸形或智力残疾。我们报告一例2岁男性患者，其身材矮小，步态逐渐加重且呈摇摆状。影像学检查结果对于指导调查和分子确诊至关重要，有助于进行适当治疗和遗传咨询。