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. 2013 Nov 7:2:594.
doi: 10.1186/2193-1801-2-594. eCollection 2013.

Radiographic characterization of the hands in Ritscher-Schinzel/3-C syndrome

Kaitlyn J Friesen  1 , Bernard N Chodirker, Albert E Chudley, Martin H Reed, Alison M Elliott
Affiliations

Radiographic characterization of the hands in Ritscher-Schinzel/3-C syndrome

Kaitlyn J Friesen et al. Springerplus. .

Abstract

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.

Objective: The 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 methods: 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.

Results: 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.

Conclusion: The hand findings identified in this study can provide helpful diagnostic tools to clinicians when the diagnosis of RSS is being considered.

Keywords: 3-C syndrome; Carpal height; Metacarpophalangeal pattern (MCPP); Phenotype; Profile; Ritscher-Schinzel syndrome.

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Figures

Figure 1
Figure 1
MCPP profiles of the left (a) and right (b) hands of RSS patients. Distal phalanges (D), Middle phalanges (M), Proximal phalanges (P) and Metacarpals (MC).
Figure 2
Figure 2
Mean MCPP profiles on RSS patients. a represents the mean of the left hands (8 patients), b represents the mean of the right hands (7 patients).
Figure 3
Figure 3
Carpal height standard deviations of RSS patients.
Figure 4
Figure 4
Bilateral hand X-ray of a 13 year old male (a) and a 22 year old male (b) with Ritscher-Schinzel Syndrome. a The fifth distal phalanges are hypoplastic, the bones are overtubulated (especially metacarpals 2-4) and the distal phalanges have prominent tufts. b Metacarpals 2-4 are overtubulated, the distal phalanges short, and the fifth distal phalanges are gracile.
See this image and copyright information in PMC

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