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.

PDF) Lacrimal drainage anomalies in Rubinstein-Taybi syndrome

Fourteen causative CREBBP mutations detected by direct sequencing

a Patient 16 (negative for CREBBP mutations); b patient 17

Rubinstein–Taybi syndrome: clinical and molecular overview

Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP

A case with Rubinstein-Taybi syndrome: A novel frameshift mutation

PDF) Case Report: Rubinstein-Taybi Syndrome

Congenital glaucoma as a presenting feature of Rubinstein-Taybi

Full article: 8th Excellence in Pediatrics Conference - 2016 Book

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

A novel CREBBP mutation and its phenotype in a case of Rubinstein

Rubinstein–Taybi syndrome: clinical and molecular overview