title: Radiographic characterization of the hands in Ritscher-Schinzel/3-C syndrome.
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.
  
  
  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.
  
  
  CONCLUSIONS
  The hand findings identified in this study can provide helpful diagnostic tools to clinicians when the diagnosis of RSS is being considered.
authors.affiliation: Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Manitoba R3E 0W3 Canada.
authors.forename: Kaitlyn J
authors.initials: KJ
authors.lastname: Friesen
authors.forename: Bernard N
authors.initials: BN
authors.lastname: Chodirker
authors.forename: Albert E
authors.initials: AE
authors.lastname: Chudley
authors.forename: Martin H
authors.initials: MH
authors.lastname: Reed
authors.forename: Alison M
authors.initials: AM
authors.lastname: Elliott
keywords: 3-C syndrome; Carpal height; Metacarpophalangeal pattern (MCPP); Phenotype; Profile; Ritscher-Schinzel syndrome