Friesen Kaitlyn J, Chodirker Bernard N, Chudley Albert E, Reed Martin H, Elliott Alison M
Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Manitoba R3E 0W3 Canada.
Springerplus. 2013 Nov 7;2:594. doi: 10.1186/2193-1801-2-594. eCollection 2013.
Ritscher-Schinzel Syndrome (RSS) is a clinically variable, autosomal recessive disorder, involving cardiac, cerebellar and craniofacial abnormalities. Numerous reports describe hand changes in RSS patients; however, a detailed characterization of the hands has not previously been performed.
The purpose of this study was to identify whether specific radiographic hand changes were characteristic of RSS and could serve as a diagnostic tool.
We performed a detailed radiographic hand characterization of 8 RSS patients. The patient population consisted of 5 males and 3 females from ages one month to 26 years, 7 months. The hands were characterized using metacarpophalangeal pattern (MCPP) profiles, carpal height and bone age analyses and assessment of bone morphology.
There was generalized brachydactyly with the second ray being the most severely affected. There was significant shortening of the first metacarpal and the fifth distal phalanx. The MCPP profile generated showed a consistent wavy pattern with average Z-scores ranging from -0.15 (4(th) proximal phalanx) to -2.13 (1(st) metacarpal) and 0.53 (4(th) middle phalanx) to -1.73 (2(nd) proximal phalanx) for the left and right hands, respectively. Six of eight patients showed a decreased carpal height. Bone age was within normal limits for all patients. Our study population showed consistent radiographic changes including: overtubulation of the bones (especially metacarpals 2-4), prominent tufts of the distal phalanges and a hypoplastic fifth distal phalanx.
The hand findings identified in this study can provide helpful diagnostic tools to clinicians when the diagnosis of RSS is being considered.
里彻尔-申泽尔综合征（RSS）是一种临床症状多变的常染色体隐性疾病，涉及心脏、小脑和颅面部异常。众多报告描述了RSS患者手部的变化；然而，此前尚未对手部进行详细的特征描述。
本研究的目的是确定特定的手部X线特征是否为RSS所特有，并能否作为一种诊断工具。
我们对8例RSS患者的手部进行了详细的X线特征描述。患者群体包括5名男性和3名女性，年龄从1个月至26岁7个月。通过掌指骨模式（MCPP）轮廓、腕骨高度和骨龄分析以及骨形态评估来对手部进行特征描述。
普遍存在短指畸形，第二指列受影响最为严重。第一掌骨和第五远节指骨明显缩短。所生成的MCPP轮廓显示出一致的波浪状模式，左手和右手的平均Z值分别为-0.15（第四近节指骨）至-2.13（第一掌骨）以及0.53（第四中节指骨）至-1.73（第二近节指骨）。8例患者中有6例腕骨高度降低。所有患者的骨龄均在正常范围内。我们的研究群体显示出一致的X线变化，包括：骨骼过度管状化（尤其是第二至第四掌骨）、远节指骨的突出指端以及发育不全的第五远节指骨。
本研究中确定的手部表现可为临床医生在考虑诊断RSS时提供有用的诊断工具。
