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Metacarpophalangeal pattern profile analysis in Rubinstein-Taybi syndrome

โœ Scribed by Hennekam, Raoul C. M. ;Van Den Boogaard, Marie-Jose ;Dijkstra, Piet F. ;Van de Kamp, Jacques J. P.

Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
274 KB
Volume
37
Category
Article
ISSN
0148-7299

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โœฆ Synopsis

Metacarpophalangeal pattern profile (MCPP) was determined in 49 radiographs of 40 patients with Rubinstein-Taybi syndrome. Two recognizable hand profiles were seen, depending on the configuration of the thumb and on age. Patients with a straight thumb showed a short first proximal phalanx, and short third medial phalanx. Patients with a radially deviated thumb had a short first proximal phalanx. Depending on age, a relatively large (infancy) or markedly short (older patients) first distal phalanx was found. The similarity between the patients was high. A third group of patients did not show a particular hand profile, but only small hand bones. The pattern variability indices were high in all groups of patients. MCPP analysis in Rubinstein-Taybi syndrome seems to be a powerful, but not pathognomonic, diagnostic tool.

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