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双层髌骨（Double-layered patella, DLP）在1925年由Büttner首先报道；是一种相对少见的常染色体隐性遗传的疾病，是由软骨发育不良畸形输硫蛋白 (DiastrophicDysplasiaSulfateTransporter,DTDST)基因突变导致的多发性骨骺发育不良(Multiple Epiphyseal Dysplasia，MED)。临床表现为双侧膝前反复发作性疼痛和早发性髋关节炎，可伴有轻度短指和马蹄足的畸形。 The double-layered patella (DLP) was first described by Büttner in 1925. It is a rare entity that is often associated with an autosomal recessive form of multiple epiphyseal dysplasia (MED) caused by a homozygous diastrophic dysplasia sulfate transporter (DTDST) gene mutation2, although COMP and COL9A2 deletions have also been reported to cause DLP. DLP is a relatively mild form of MED, and clinical findings are often limited to bilateral recurrent anterior knee pain and early-onset hip osteoarthritis (C653S homozygous DTDST gene) as well as mild brachydactyly and clubfoot deformity (R279W homozygous DTDST gene). ---JBJS Case Connect, 2013 May 22; 3 (2). 图片来源 ---Pediatr Radiol. 2005 Feb;35(2):116-23 |
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