Broad thumb-hallux (Rubinstein-Taybi) syndrome 1957-1988.
Broad thumb-hallux (Rubinstein-Taybi) syndrome 1957-1988.
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DOI：
10.1002/ajmg.1320370603
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发表时间：
2005-06
期刊：
影响因子：
--
通讯作者：
J. Rubinstein
中科院分区：
文献类型：
--
作者：
J. Rubinstein
本报告记录了宽拇指-拇趾综合征的描述的早期历史，并试图更新有关这种综合征的知识的现状。从世界文献、与受影响个体的同事和家人的通信以及个人观察中收集并审查了571名个体的信息。大多数病例的诊断是通过确认主要诊断标准的组合的同时发生来确定的，这些主要诊断标准包括拇指和拇趾的宽短的末端趾骨，有或没有成角畸形，特征性的面部外观，喙状或直鼻，睑裂的反蒙古倾斜，明显或临床的距离过远和鬼脸微笑，身高和头围（OFC）低于第50百分位数。智力、运动、社交和语言发育迟缓;步态僵硬笨拙;男性睾丸下降不完全或延迟。相关的临床因素，家族发生，和细胞遗传学研究结果的信息。
This presentation records the early history of the description of the broad thumb-hallux syndrome and attempts to update the current state of knowledge about this syndrome. Information was collected and reviewed on 571 individuals from the world literature, from communications with colleagues and families of affected individuals, and from personal observation. The diagnosis was established in most cases by confirming the concurrence of the constellation of major diagnostic criteria, including broad short terminal phalanges of the thumbs and halluces, with or without angulation deformity; characteristic facial appearance with beaked or straight nose, antimongoloid slant of palpebral fissures, apparent or clinical hypertelorism and grimacing smile; stature and head circumference (OFC) below 50th centile; mental, motor, social, and language retardation; stiff awkward gait; and incomplete or delayed descent of testes in males. Information on associated clinical factors, familial occurrence, and cytogenetic findings is presented.