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- W1966639248 abstract "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." @default.
- W1966639248 created "2016-06-24" @default.
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- W1966639248 date "2005-06-06" @default.
- W1966639248 modified "2023-09-26" @default.
- W1966639248 title "Metacarpophalangeal pattern profile analysis in Rubinstein-Taybi syndrome" @default.
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- W1966639248 doi "https://doi.org/10.1002/ajmg.1320370608" @default.
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