Abstract
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.ObjectiveThe purpose of this study was to identify whether specific radiographic hand changes were characteristic of RSS and could serve as a diagnostic tool.Materials and methodsWe 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.ResultsThere 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 (4th proximal phalanx) to -2.13 (1st metacarpal) and 0.53 (4th middle phalanx) to -1.73 (2nd 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.ConclusionThe hand findings identified in this study can provide helpful diagnostic tools to clinicians when the diagnosis of RSS is being considered.
Highlights
Ritscher-Schinzel Syndrome (RSS) is a rare, autosomal recessive disorder first described by Ritscher et al (Ritscher et al 1987) who reported two sisters with similar craniofacial, cerebellar, and cardiac abnormalities
The Metacarpophalangeal pattern (MCPP) profile generated showed a consistent wavy pattern with average Z-scores ranging from -0.15 (4th proximal phalanx) to -2.13 (1st metacarpal) and 0.53 (4th middle phalanx) to -1.73 (2nd proximal phalanx) for the left and right hands, respectively
MCPP profiles The MCPP profiles of the left and right hands are represented in Figure 1a, b respectively
Summary
Ritscher-Schinzel Syndrome (RSS) is a rare, autosomal recessive disorder first described by Ritscher et al (Ritscher et al 1987) who reported two sisters with similar craniofacial, cerebellar, and cardiac abnormalities. In addition to the craniofacial, cardiac, and cerebellar defects, numerous reports have discussed abnormalities involving the hands. Reported findings include: brachydactyly, camptodactyly, clinodactyly, syndactyly, single transverse creases, bilaterally adducted thumbs, absent flexion creases, proximally inserted thumbs, cutaneous syndactyly, and hypoplastic fingernails (Marles et al 1995; Rusnak et al 2008; Kosaki et al 1997; Wheeler et al 1999; DeScipio et al 2005; Seidahmed et al 2011). Despite clinical reports of hand anomalies, a detailed radiographic characterization of hand findings in RSS patients has not previously been performed
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