Rubinstein-Taybi syndrome: case report of a rare syndrome caused by an abnormality of chromosome 16

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Abstract

Case Presentation: GDNS, male, 8 years old, born at term by cesarean delivery. His parents were non-consanguineous and he had no family history of genetic syndromes. The mother noticed some developmental alteration when he was 9 months old, and he started being monitored at 14 months. On physical examination, hypertelorism, inability to sit down, appendicular hypotonia, enlarged thumbs and hallux, and micrognathism were identified. The mother reported that the child had difficulty eating and a videofluoroscopy exam was performed to investigate, which confirmed oropharyngeal dysphagia. It was observed that the child's tear duct was obstructed. Considering the findings of psychomotor developmental delay, facial dysmorphisms and low weight and height for age, a complete exome sequencing was requested to identify the clinical suspicion of Rubinstein-Taybi syndrome. A heterozygous, probably pathogenic variant was found in the CREBBP gene, which confirmed the patient's clinical condition. The recommendation was for the patient to continue in multidisciplinary follow-up to assist in neuropsychomotor development.

Discussion: In this case, the so-called Rubinstein Taybi Syndrome is described, which affects 1 in every 300,000 live births. This genetic disease has an autosomal dominant character that most frequently affects the CREBBP gene (about 56%), which is located on chromosome 16p13 and encodes a cAMP binding protein called CREB binding protein, which plays an important role in the transcription of different genes. About 3-8% of cases affect the EP300 gene and about 30% of cases still have no defined genetic cause. Great thumbs and great toes are characteristic of this disease. Facial dysmorphia, intellectual disability and delayed postnatal development are also found. The diagnosis is primarily clinical to be confirmed with the aid of genetic testing.

Final Comments: It is important for the professional to make a structured clinical diagnosis, since, in most cases, the exam can confirm this diagnosis, but there is still a large percentage of cases in which the genetic alteration causing the problem is not known. Therefore, more studies focused on both the causes and the management of these patients are

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Artikel online veröffentlicht:
12. Mai 2025