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

Photographs of patient face, hands, and feet described with CREBBP

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

Fourteen causative CREBBP mutations detected by direct sequencing