温彻斯特综合征(WS)是一种罕见的遗传性疾病,迄今为止报道了少数病例。我们报告了一名14岁的男性,他表现出生长迟缓,由于厚的硬结皮肤导致左下肢挛缩,多毛症,和双侧角膜混浊。口服倍他米松脉冲和每周口服甲氨蝶呤可完全改善关节挛缩。
Winchester syndrome (WS) is a rare genetic disorder with a handful of cases reported to date. We report a 14-year-old male who presented with growth retardation, contracture of left lower limb due to thick indurated skin, hypertrichosis, and bilateral corneal opacity. There was complete improvement in joint contracture with oral betamethasone pulse and weekly oral methotrexate.