Plant G R, Hansell D M, Gibberd F B, Sidey M C
Department of Radiology, Westminster Hospital, London.
Br J Radiol. 1990 Jul;63(751):537-41. doi: 10.1259/0007-1285-63-751-537.
Refsum's disease is a rare inborn error of phytanic acid metabolism in which skeletal abnormalities are part of the clinical syndrome. The reported incidence of bone changes in patients with Refsum's disease varies widely and reflects the small series published to date. An analysis of the skeletal abnormalities of the largest series of patients in the world is presented.
雷夫叙姆病是一种罕见的植烷酸代谢先天性疾病，骨骼异常是其临床综合征的一部分。雷夫叙姆病患者骨骼改变的报道发病率差异很大，这反映了迄今为止发表的病例数较少。本文对世界上最大系列患者的骨骼异常情况进行了分析。
