Introduction: Oral and dental (OD) disorders in children with Rubinstein-Taybi syndrome (RTS) are frequent but not well-known by dentists pediatricians due to the being extremely rare. Objective: To describe OD findings observed a 5-year-old girl RTS update literature. Clinical case: The patient presented following manifestations: prominent lower lip, narrow mouth opening, arched palate, histor...

BACKGROUND Rubinstein-Taybi syndrome (RSTS) is an extremely rare autosomal dominant genetic disease, with an estimated prevalence of one case per 125,000 live births. RSTS is characterized by typical facial features, microcephaly, broad thumbs and first toes, intellectual disability, and postnatal growth retardation. However, no standard diagnostic criteria are available for RSTS. In this revie...

Figura 1 Angio-TC torácica con reconstrucción VR-3D, visión posterosuperior. En esta imagen podemos observar un arco aórtico completo, con origen independiente de los troncos supraaórticos: en el arco izquierdo, ligeramente de mayor calibre, se originan la arteria carótida y subclavia izquierdas y en el arco derecho, la arteria carótida, vertebral y subclavia derechas. AAo: ascending aorta (aor...

To the Editor : Rubinstein–Taybi syndrome (RTS) is a rare autosomal dominant disease (OMIM 180849), characterized by craniofacial dysmorphisms, broad thumbs and toes, mental and growth deficiency (1). RTSs has been associated with creb binding protein (CBP ) mutations and less frequently with EP300 mutations (2). CBP and p300 have high homology and are critical for many signaling pathways, espe...