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迟发性脊柱骨骺发育不良(spondyloepiphyseal dysplasia tarda,SEDT)是X-染色体连锁隐性遗传性疾病。SEDT的实际发病率尚未确定,Wynne-Davies等估计英国人口SEDT的发病率为1.7/100万,通常儿童时期起病。主要表现为短躯干型侏儒和继发性大关节炎,临床极为少见。本文报道2012年9月山西医科大学附属大医院收治的1例SEDT患者及家系情况,同时复习文献报道的33例患者[1-18],进行归纳总结,并与幼年特发性关节炎进行比较,以提高对本病的认识。1病历资料患者男,29岁。主因间断右侧髋区疼痛2年余
Spondyloepiphyseal dysplasia tarda (SEDT) is a X-linked recessive genetic disease. The actual incidence of SEDT has not yet been determined. Wynne-Davies et al. Estimate the incidence of SEDT in the UK to be 1.7 / 1 million and usually start in childhood. Mainly for the short trunk type dwarf and secondary large arthritis, clinical is extremely rare. This article reports a case of SEDT patients and pedigrees admitted to the Affiliated Hospital of Shanxi Medical University in September 2012, and reviewed 33 cases reported in the literature [1-18], summarized and compared with juvenile idiopathic arthritis , To raise awareness of the disease. Patient information Male patient, 29 years old. The main cause of intermittent right hip pain more than 2 years