Windswept deformity in a patient with Schwartz-Jampel syndrome

被引：4
|
作者：
Al Kaissi, Ali [1 ,2 ,3 ]
Ganger, Rudolf [3 ]
Klaushofer, Klaus [1 ,2 ]
Grill, Franz [3 ]
机构：
[1] Hanusch Hosp WGKK, Ludwig Boltzmann Inst Osteol, AT-1140 Vienna, Austria
[2] Hanusch Hosp, AUVA Trauma Ctr Meidling, Dept Med 1, AT-1140 Vienna, Austria
[3] Orthopaed Hosp Speising, Dept Paediat, Vienna, Austria
来源：
SWISS MEDICAL WEEKLY | 2012年 / 142卷
关键词：
Schwartz-Jampel syndrome; windswept leg deformity; orthopaedic management; STUVE-WIEDEMANN-SYNDROME; TAYLOR-SPATIAL FRAME; SYNDROME TYPE-2; TIBIA VARA; PERLECAN; CHILDREN;
D O I：
10.4414/smw.2012.13519
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
A 13-year-old boy presented with the overall phenotypic and genotypic characterisation of Schwarz-Jampel syndrome (SJS). Windswept deformity was a major orthopaedic abnormality. Prompt diagnostic measures were applied to this patient associated with several orthopaedic procedures to move closer to acceptable appearance and function.
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页数：10
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