Rubinstein-Taybi Syndrome

Jane Waite; Raoul Hennekam

doi:10.4135/9781483392271.n431

Rubinstein-Taybi Syndrome

Jane Waite, Raoul Hennekam

School of Psychology

Research output: Chapter in Book/Published conference output › Entry for encyclopedia/dictionary

Abstract

Rubinstein-Taybi syndrome (RTS) is a rare developmental disorder that was first identified in 1958 by three Greek orthopedic surgeons: J. Michail, J. Matsoukas, and S. Theodorou. In 1963, Jack Rubinstein and Hooshang Taybi, medical doctors from the United States, published the first case series of seven individuals with the syndrome. This arose after Rubinstein and Taybi assessed two children with intellectual disability who had a similar facial appearance and, importantly, unusually broad thumbs and big toes. They circulated the clinical profile to their colleagues, and a further five children were discovered. The syndrome is also known as broad thumb–hallux syndrome because of these defining characteristics.

Original language	English
Title of host publication	The SAGE Encyclopedia of Intellectual and Developmental Disorders
Editors	Ellen Braaten
Publisher	SAGE
ISBN (Print)	9781483392295
DOIs	https://doi.org/10.4135/9781483392271.n431
Publication status	Published - 2018

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title = "Rubinstein-Taybi Syndrome",

abstract = "Rubinstein-Taybi syndrome (RTS) is a rare developmental disorder that was first identified in 1958 by three Greek orthopedic surgeons: J. Michail, J. Matsoukas, and S. Theodorou. In 1963, Jack Rubinstein and Hooshang Taybi, medical doctors from the United States, published the first case series of seven individuals with the syndrome. This arose after Rubinstein and Taybi assessed two children with intellectual disability who had a similar facial appearance and, importantly, unusually broad thumbs and big toes. They circulated the clinical profile to their colleagues, and a further five children were discovered. The syndrome is also known as broad thumb–hallux syndrome because of these defining characteristics.",

author = "Jane Waite and Raoul Hennekam",

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T1 - Rubinstein-Taybi Syndrome

AU - Waite, Jane

AU - Hennekam, Raoul

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AB - Rubinstein-Taybi syndrome (RTS) is a rare developmental disorder that was first identified in 1958 by three Greek orthopedic surgeons: J. Michail, J. Matsoukas, and S. Theodorou. In 1963, Jack Rubinstein and Hooshang Taybi, medical doctors from the United States, published the first case series of seven individuals with the syndrome. This arose after Rubinstein and Taybi assessed two children with intellectual disability who had a similar facial appearance and, importantly, unusually broad thumbs and big toes. They circulated the clinical profile to their colleagues, and a further five children were discovered. The syndrome is also known as broad thumb–hallux syndrome because of these defining characteristics.

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SN - 9781483392295

BT - The SAGE Encyclopedia of Intellectual and Developmental Disorders

A2 - Braaten, Ellen

PB - SAGE

ER -

Rubinstein-Taybi Syndrome

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