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.

child with features of RSTS Download Scientific Diagram

Rubinstein–Taybi syndrome associated with Chiari type I

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Schematic representation (not in scale) of the CBP (A) and p300 (B