Rubinstein - Taybi syndrome: phenotypic characteristics Case Report

Abstract

Introduction: Rubinstein-Taybi syndrome is a pathology of genetic origin that affects 1 out of every 100,000 to 125,000 live births, and it is characterized by growth retardation, delay in psychomotor development, and morphological abnormalities that include peculiar facial features (thick arched eyebrows, downward sloping palpebral fissures, convex nasal bridge with tip of nose below wings) and broad thumbs and halluxes. Its epigenetic origin in 60% of cases is due to an alteration in the CREBBP gene (coding for CPB protein), while in 10%, it is due to a change in the EP300 gene (coding for p300 protein), and in 30%, there is no identifiable cause.

Clinical case: An 8-year-old boy with a delay in psychomotor development had difficulties in adapting to school. On physical examination, facial features showed overpopulated and arched eyebrows, hirsutism in the forehead and upper lip region, downward sloping palpebral fissures, hypertelorism with convergent strabismus, wide nasal bridge, and flattened nose. The tip extends slightly below the nasal wings, with hirsutism in the cervical and interscapular region. In the hands, broad thumbs are identified. In the rest of the fingers, there are widened distal phalanges, and in the same way, in the region of the feet, a wide hallux and widened distal phalanges are identified.

Evolution: The patient continues to be observed by outpatient consultation. He was sent to speech, reading, and psychomotor therapy programs. He has not developed pulmonary infections until the close of follow-up at 6 months after diagnosis.

Conclusion: In this case report, we discuss the phenotypic alterations of the facial and limb characteristics of a child with Rubinstein-Taybi syndrome, which helped the clinical diagnosis.