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[The Rubinstein-Taybi syndrome].

D Dumbravă1, R Brejbeanu, L Popescu

  • 1Spitalul Judeţean, Ploieşti.

Pediatrie (Bucharest, Romania)
|April 1, 1990
PubMed
Summary

This case study details a 4-month-old infant diagnosed with Rubinstein-Taybi syndrome, highlighting key clinical features. The report reviews syndrome data and pathogenic hypotheses for this rare genetic disorder.

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Area of Science:

  • Genetics
  • Pediatrics
  • Rare Diseases

Background:

  • Rubinstein-Taybi syndrome (RTS) is a rare genetic disorder characterized by intellectual disability, distinctive facial features, and broad thumbs/toes.
  • Early diagnosis is crucial for timely intervention and management of associated health issues.

Observation:

  • Presents a case of an infant diagnosed with Rubinstein-Taybi syndrome at 4 months of age.
  • Details the primary clinical manifestations observed in the infant that led to the diagnosis.

Findings:

  • The infant exhibited characteristic clinical signs consistent with Rubinstein-Taybi syndrome.
  • The paper provides a concise overview of the syndrome's data and reviews current pathogenic hypotheses.

Implications:

  • Highlights the importance of recognizing specific clinical manifestations for early diagnosis of Rubinstein-Taybi syndrome in infants.
  • Contributes to the understanding of RTS and potential etiological factors, aiding future research and clinical practice.

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