Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP

Rubinstein&#x2013;Taybi syndrome (RSTS) is a rare genetic disorder characterized by dysmorphic facial features, broad thumbs and halluces, intellectual disability, and postnatal growth retardation. This report presents a male infant with microcephaly and characteristic facial features, namely, low anterior hairline, hirsutism, thin upper lip and micrognathia, broad thumbs and first toes, cryptorchidism, recurrent pneumonia, developmental delay, and growth retardation. Genetic testing showed a novel pathogenic variant in the <i>CREBBP</i> gene which is consistent with the clinical diagnosis of RSTS.

Epigenetic mechanisms of Rubinstein-Taybi syndrome. - Abstract

Rubinstein–Taybi syndrome associated with Chiari type I

Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome

PDF) Lacrimal drainage anomalies in Rubinstein-Taybi syndrome

CREBBP mutations in individuals without Rubinstein–Taybi syndrome

PDF) Novel heterozygous variants in the EP300 gene cause

Frontiers Case report: A preterm infant with rubinstein-taybi

PDF) Rubinstein-Taybi syndrome medical guidelines

genetic test report depicting disease and inheritance

PDF) Rubinstein-Taybi syndrome medical guidelines