Casarubinstein taybi syndrome

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

Por um escritor misterioso
Last updated 21 setembro 2024
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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