Kozlowski type spondylometaphyseal dysplasia:one case report
10.3969/j.issn.1000-3606.2015.06.019
- VernacularTitle:Kozlowski型脊椎干骺端发育不良1例报告
- Author:
Lei SUO
;
Zuo LUAN
- Publication Type:Journal Article
- Keywords:
Kozlowski type spondylometaphyseal dysplasia;
radiographic presentation;
gene mutation
- From:
Journal of Clinical Pediatrics
2015;(6):576-578
- CountryChina
- Language:Chinese
-
Abstract:
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.
