La sindrome di Rubistein-Taybi

Translated title of the contribution: Rubistein-Taybi syndrome

Chiara Fossati, Donatella Milani, Angelo Selicorni

Research output: Contribution to journalArticle

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 contributionRubistein-Taybi syndrome
Original languageItalian
Pages (from-to)63-66
Number of pages4
JournalArea Pediatrica
Volume13
Issue number3
DOIs
Publication statusPublished - Jun 2012

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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