La sindrome di Rubistein-Taybi

Chiara Fossati; Donatella Milani; Angelo Selicorni

doi:10.1016/j.arped.2012.08.003

La sindrome di Rubistein-Taybi

Translated title of the contribution: Rubistein-Taybi syndrome

Chiara Fossati, Donatella Milani, Angelo Selicorni

Fondazione IRCCS Ca' Granda- Ospedale Maggiore Policlinico

Research output: Contribution to journal › Article › peer-review

Abstract

Rubistein-Taybi syndrome (RSTS) is a rare multiple congenital anomalies syndrome characterized by growth and psychomotor delay, mainly with a clinical diagnosis. Characteristic of this syndrome, besides typical facial features, is the shape of thumbs and great toes, usually broad and bifid. Mental retardation is often moderate. The incidence is about 1/100,000 at birth. It is possible to obtain a diagnostic confirmation by lab tests in about 60% of patients. A scheduled pediatric follow up is mandatory.

Translated title of the contribution	Rubistein-Taybi syndrome
Original language	Italian
Pages (from-to)	63-66
Number of pages	4
Journal	Area Pediatrica
Volume	13
Issue number	3
DOIs	https://doi.org/10.1016/j.arped.2012.08.003
Publication status	Published - Jun 2012

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

Access to Document

10.1016/j.arped.2012.08.003

Cite this

@article{d4479f18616e4f738dbed25e4d9f8164,

title = "La sindrome di Rubistein-Taybi",

abstract = "Rubistein-Taybi syndrome (RSTS) is a rare multiple congenital anomalies syndrome characterized by growth and psychomotor delay, mainly with a clinical diagnosis. Characteristic of this syndrome, besides typical facial features, is the shape of thumbs and great toes, usually broad and bifid. Mental retardation is often moderate. The incidence is about 1/100,000 at birth. It is possible to obtain a diagnostic confirmation by lab tests in about 60% of patients. A scheduled pediatric follow up is mandatory.",

keywords = "Dysmorphisms, First fingers broad and bifid, Growth and mental retardation",

author = "Chiara Fossati and Donatella Milani and Angelo Selicorni",

year = "2012",

month = jun,

doi = "10.1016/j.arped.2012.08.003",

language = "Italian",

volume = "13",

pages = "63--66",

journal = "Area Pediatrica",

issn = "1591-0075",

publisher = "Masson SpA",

number = "3",

}

TY - JOUR

T1 - La sindrome di Rubistein-Taybi

AU - Fossati, Chiara

AU - Milani, Donatella

AU - Selicorni, Angelo

PY - 2012/6

Y1 - 2012/6

N2 - Rubistein-Taybi syndrome (RSTS) is a rare multiple congenital anomalies syndrome characterized by growth and psychomotor delay, mainly with a clinical diagnosis. Characteristic of this syndrome, besides typical facial features, is the shape of thumbs and great toes, usually broad and bifid. Mental retardation is often moderate. The incidence is about 1/100,000 at birth. It is possible to obtain a diagnostic confirmation by lab tests in about 60% of patients. A scheduled pediatric follow up is mandatory.

AB - Rubistein-Taybi syndrome (RSTS) is a rare multiple congenital anomalies syndrome characterized by growth and psychomotor delay, mainly with a clinical diagnosis. Characteristic of this syndrome, besides typical facial features, is the shape of thumbs and great toes, usually broad and bifid. Mental retardation is often moderate. The incidence is about 1/100,000 at birth. It is possible to obtain a diagnostic confirmation by lab tests in about 60% of patients. A scheduled pediatric follow up is mandatory.

KW - Dysmorphisms

KW - First fingers broad and bifid

KW - Growth and mental retardation

UR - http://www.scopus.com/inward/record.url?scp=84869171861&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84869171861&partnerID=8YFLogxK

U2 - 10.1016/j.arped.2012.08.003

DO - 10.1016/j.arped.2012.08.003

M3 - Articolo

AN - SCOPUS:84869171861

VL - 13

SP - 63

EP - 66

JO - Area Pediatrica

JF - Area Pediatrica

SN - 1591-0075

IS - 3

ER -

La sindrome di Rubistein-Taybi

Abstract

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this