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进行性骨化性纤维发育不良(FOP),系罕见的常染色体显性遗传性疾病,主要累及结缔组织,估计发病率为0.6/10万。多数病例表现出受父系年龄影响,属近期突变。目前尚无有效疗法,应避免任何外伤(包括肌肉注射,活检等),否则将加重。临床特征:第一拇指 (趾)过小畸形,以及常始于10岁前的进行性结缔组织骨化,最终将发生严重的运动障碍,约25～30％的病人伴有听力减退。可属感音神经性、传导性或混合性聋,故认为听力减退也是FOP的一个典型特征。耳显微镜检查正常、中
Progressive ossification of fibrosis (FOP), Department of rare autosomal dominant genetic disease, mainly involving the connective tissue, the estimated incidence of 0.6 / 100000. Most cases show the impact of paternal age, is a recent mutation. There is currently no effective therapy and any trauma (including intramuscular injections, biopsies, etc.) should be avoided or it will aggravate. CLINICAL FEATURES: First thumb (toe) deformity, and progressive connective tissue ossification beginning 10 years ago, will eventually lead to severe dyskinesias, with about 25 to 30% of patients with hearing loss. May belong to sensorineural, conductive or mixed deafness, so that hearing loss is also a typical feature of FOP. Ear microscope normal, medium