Pediatrics & Neonatal Biology Open Access (PNBOA)

ISSN: 2640-2726

Case Report

Rubinstein - Taybi Syndrome Associated with Amelogenesis Imperfecta – Report of a Rare Case

Authors: Nagaveni NB*

DOI: 10.23880/pnboa-16000181

Abstract

Rubinstein-Taybi syndrome (RSTS) refers to a specific pattern of physical features and developmental disabilities, which occur together in a consistent fashion. Individuals with RSTS have a short stature, developmental delay, broad thumbs and halluces and many other anomalies. The most commonly seen intraoral feature in RSTS patients is talon cusps. However, dens invaginatus, high arched palate, dental caries and malocclusions have also been reported in association with RSTS. The present article reports a rare case of Rubinstein-Taybi syndrome associated with an unusual intra oral feature like Amelogenesis Imperfecta which is not reported so far.

Keywords: Amelogenesis Imperfecta; Broad Thumbs; Great Toes; Mental Retardation; RSTS; Syndrome

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