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Radiographic characterization of the hands in Ritscher-Schinzel/3-C syndrome.
Kaitlyn J Friesen1, Bernard N Chodirker, Albert E Chudley
1Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Manitoba R3E 0W3 Canada.
Springerplus
|November 21, 2013
Summary
Ritscher-Schinzel Syndrome (RSS) is characterized by specific hand abnormalities, including brachydactyly and hypoplastic phalanges. These radiographic findings can aid in diagnosing this rare genetic disorder.
Area of Science:
- Medical Genetics
- Radiology
- Skeletal Dysplasias
Background:
- Ritscher-Schinzel Syndrome (RSS) is an autosomal recessive disorder with variable cardiac, cerebellar, and craniofacial features.
- Hand abnormalities are frequently reported in RSS, but detailed radiographic characterization has been lacking.
Purpose of the Study:
- To identify characteristic radiographic hand changes in Ritscher-Schinzel Syndrome.
- To determine if these hand findings can serve as a diagnostic tool for RSS.
Main Methods:
- Radiographic analysis of hands in 8 patients with Ritscher-Schinzel Syndrome (ages 1 month to 26 years).
- Evaluated metacarpophalangeal pattern (MCPP) profiles, carpal height, bone age, and bone morphology.
Main Results:
- Generalized brachydactyly observed, most severe in the second ray.
- Significant shortening of the first metacarpal and fifth distal phalanx.
- Consistent radiographic changes include overtubulation of metacarpals 2-4, prominent distal phalangeal tufts, and hypoplastic fifth distal phalanx.
Conclusions:
- Specific radiographic hand findings in Ritscher-Schinzel Syndrome are identified.
- These hand characteristics can assist clinicians in diagnosing RSS.
Keywords:
3-C syndromeCarpal heightMetacarpophalangeal pattern (MCPP)PhenotypeProfileRitscher-Schinzel syndromeMore Related Videos
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