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.

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

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genetic test report depicting disease and inheritance

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Congenital glaucoma as a presenting feature of Rubinstein-Taybi

Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP

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

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Fourteen causative CREBBP mutations detected by direct sequencing