Kozlowski型脊椎干骺端发育不良1例报告  

Kozlowski type spondylometaphyseal dysplasia: one case report

作　　者：索磊[1] 栾佐[1] 

机构地区：[1]中国人民解放军海军总医院儿科,北京100048

出　　处：《临床儿科杂志》2015年第6期576-578,共3页Journal of Clinical Pediatrics

摘　　要：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。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.

关 键 词：脊椎干骺端发育不良 影像学表现 基因突变 

分 类 号：R726.8[医药卫生—儿科]