Abstract：
The Stickler syndrome (SS) has been described as a \"hereditary progressive arthro-ophtalmopathy\" by Stickler in 1965, due to mutations on the collagen genes. Currently about 40 different genes have been identified which encode for at least 27 different collagens. The majority of mutations occur in the COL2A1 gene on chromosome 12q13 (SS type I). Mutations in COL11A1 are less frequent (SS type II). More recently, mutations in COL11A2 and in the COL9A1 gene have been reported with particular phenotypes. The main features of this autosomal inherited disease are ocular, auditory with orofacial abnormalities and early-onset osteoarthritis. We report the clinical presentation of an adult and his son, with a particular focus on the bone status of the father, radiography, bone densitometry and transiliac bone biopsy showing that he was suffering from osteoporosis. The lumbar bone mineral density was low with a Z-score at -2.9. Transiliac bone biopsy showed a dramatic decrease of trabecular bone volume (8.6%; Nl: 19.5±4.9%), thin trabeculae and a disorganized trabecular network. A slight increase of osteoid parameters was observed. Bone resorption was markedly increased with an excessive number of active (TRAcP+) osteoclasts. The cortical width was normal, but a slight increase of cortical porosity was found. Osteoporosis has been rarely described in the SS. It might be useful to systematically perform a bone densitometry in all patients with SS and to discuss the indication of a transiliac bone biopsy in severe cases.
摘要：
由于胶原蛋白基因的突变，Stickler综合征（SS）在1965年被Stickler描述为“遗传性进行性关节病”。目前已经鉴定了大约40种不同的基因,它们编码至少27种不同的胶原。大多数突变发生在染色体12q13（SSI型）的COL2A1基因中。COL11A1的突变频率较低（II型SS）。最近,已经报道了COL11A2和COL9A1基因的突变具有特定的表型.这种常染色体遗传病的主要特征是眼部，听觉与口面部异常和早发性骨关节炎。我们报告了一个成年人和他儿子的临床表现，特别关注父亲的骨骼状况，射线照相术,骨密度测定和透骨活检显示他患有骨质疏松症。腰椎矿物质密度较低，Z评分为-2.9。短暂性骨活检显示骨小梁体积显著减少(8.6%;NI:19.5±4.9%),薄的小梁和杂乱无章的小梁网络。观察到类骨质参数略有增加。随着过量的活性(TRAcP+)破骨细胞,骨吸收显著增加。皮质宽度正常,但是发现皮质孔隙度略有增加。骨质疏松症在SS中很少被描述。在所有SS患者中系统地进行骨密度测定，并在严重病例中讨论经骨活检的指征可能是有用的。
