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[The Rubinstein-Taybi syndrome]
D Dumbravă1, R Brejbeanu, L Popescu
1Spitalul Judeţean, Ploieşti.
Pediatrie (Bucharest, Romania)
|April 1, 1990
Insights
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.
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.
Abstract:
The paper reports on the case of an infant, diagnosed at 4 months, with Rubinstein-Taybi's syndrome. The main clinical manifestations of the syndrome, that allowed the case diagnosis, are presented. A series of succinct data on the syndrome and also the pathogenic hypotheses are reviewed.