Rubinstein-Taybi Syndrome

Jane Waite, Raoul Hennekam

Research output: Chapter in Book/Report/Conference proceedingEntry 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 languageEnglish
Title of host publicationThe SAGE Encyclopedia of Intellectual and Developmental Disorders
EditorsEllen Braaten
PublisherSAGE
ISBN (Print)9781483392295
DOIs
Publication statusPublished - 2018

Fingerprint

Rubinstein-Taybi Syndrome
Hallux
Disabled Children
Thumb
Intellectual Disability

Cite this

Waite, J., & Hennekam, R. (2018). Rubinstein-Taybi Syndrome. In E. Braaten (Ed.), The SAGE Encyclopedia of Intellectual and Developmental Disorders SAGE. https://doi.org/10.4135/9781483392271.n431
Waite, Jane ; Hennekam, Raoul. / Rubinstein-Taybi Syndrome. The SAGE Encyclopedia of Intellectual and Developmental Disorders. editor / Ellen Braaten. SAGE, 2018.
@inbook{75c739f03a264a69b9a246b2f9ed10af,
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",
year = "2018",
doi = "10.4135/9781483392271.n431",
language = "English",
isbn = "9781483392295",
editor = "Ellen Braaten",
booktitle = "The SAGE Encyclopedia of Intellectual and Developmental Disorders",
publisher = "SAGE",
address = "United States",

}

Waite, J & Hennekam, R 2018, Rubinstein-Taybi Syndrome. in E Braaten (ed.), The SAGE Encyclopedia of Intellectual and Developmental Disorders. SAGE. https://doi.org/10.4135/9781483392271.n431

Rubinstein-Taybi Syndrome. / Waite, Jane; Hennekam, Raoul.

The SAGE Encyclopedia of Intellectual and Developmental Disorders. ed. / Ellen Braaten. SAGE, 2018.

Research output: Chapter in Book/Report/Conference proceedingEntry for encyclopedia/dictionary

TY - CHAP

T1 - Rubinstein-Taybi Syndrome

AU - Waite, Jane

AU - Hennekam, Raoul

PY - 2018

Y1 - 2018

N2 - 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.

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.

UR - https://sk.sagepub.com/reference/the-sage-encyclopedia-of-intellectual-and-developmental-disorders/i14041.xml

U2 - 10.4135/9781483392271.n431

DO - 10.4135/9781483392271.n431

M3 - Entry for encyclopedia/dictionary

SN - 9781483392295

BT - The SAGE Encyclopedia of Intellectual and Developmental Disorders

A2 - Braaten, Ellen

PB - SAGE

ER -

Waite J, Hennekam R. Rubinstein-Taybi Syndrome. In Braaten E, editor, The SAGE Encyclopedia of Intellectual and Developmental Disorders. SAGE. 2018 https://doi.org/10.4135/9781483392271.n431