Kozlowski型脊椎干骺端发育不良1例报告

摘要

Objective To investigate the clinical characteristics and diagnostics of Kozlowski type spondylometaphyseal dysplasia (SMDK). Methods The clinical features, laboratory tests and genetic testing of one SMDK case were analyzed. Re-sults A eight-year-old male patient had more than 6 years course of disease. The clinical manifestations were stubby limbs, ifn-gers and toes, varus deformity, knee valgus deformity, scoliosis and lordosis and severe metaphyseal changes. The heterozygous mutations were detected in TRPV4 and NXX3-2 genes. Conclusions Typical clinical features combined with genetic diagnosis facilitate early detection and accurate diagnosis of SMDK.%目的：探讨Kozlowski型脊椎干骺端发育不良（SMDK）的临床特点及诊断。方法分析1例SMDK患者的临床特点、实验室检查及基因诊断，并复习相关文献。结果男性患儿8岁，病程6年余，临床表现为四肢指趾短粗，髋内翻畸形，膝外翻畸形，脊柱侧弯且前凸过度，严重的干骺端改变，TRPV4、NXX3-2基因杂合突变。结论典型的临床特征辅以基因诊断有助于及早发现和准确诊断SMDK。