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索托斯综合征的掌指纹型分析:34例受试者的随访报告

Metacarpophalangeal pattern profile analysis in Sotos syndrome: a follow-up report on 34 subjects.

作者信息

Butler M G, Dijkstra P F, Meaney F J, Gale D D

机构信息

Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, TN 37232.

出版信息

Am J Med Genet. 1988 Jan;29(1):143-7. doi: 10.1002/ajmg.1320290118.

Abstract

Metacarpophalangeal pattern profile (MCPP) was determined on 34 Sotos syndrome individuals and compared with previous MCPP studies. The mean hand profile contained a major peak in the proximal phalangeal area and a smaller peak in the metacarpal area, while the distal hand bones were relatively short. There appear to be three recognized hand profiles in Sotos syndrome, which suggests heterogeneity of the syndrome, although correlation studies indicate clinical homogeneity of individuals in the younger age groups. Discriminant analysis of Sotos syndrome versus control subjects produced a function of two MCPP variables, plus age, which may be applied as another diagnostic tool.

摘要

对34例索托斯综合征患者测定了掌指形态轮廓(MCPP),并与之前的MCPP研究进行了比较。手部形态轮廓均值显示,近端指骨区域有一个主峰,掌骨区域有一个较小的峰,而手部远端骨骼相对较短。索托斯综合征似乎有三种公认的手部形态轮廓,这表明该综合征具有异质性,尽管相关性研究表明较年轻年龄组个体的临床同质性。索托斯综合征与对照受试者的判别分析产生了一个由两个MCPP变量加年龄组成的函数,可作为另一种诊断工具。

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