Metacarpophalangeal pattern profile analysis in Rubinstein‐Taybi syndrome
作者:
Raoul C. M. Hennekam,
Marie‐Jose Van Den Boogaard,
Piet F. Dijkstra,
Jacques J. P. Van de Kamp,
期刊:
American Journal of Medical Genetics
(WILEY Available online 1990)
卷期:
Volume 37,
issue S6
页码: 48-50
ISSN:0148-7299
年代: 1990
DOI:10.1002/ajmg.1320370608
出版商: Wiley Subscription Services, Inc., A Wiley Company
关键词: metacarpophalangeal pattern profile;pattern variability index
数据来源: WILEY
摘要:
AbstractMetacarpophalangeal 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 t
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