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[Rubinstein-Taybi syndrome--case report]

A Bakunowicz-Lazarczyk¹, B Urban, M Mrugacz

¹Kliniki Okulistyki Dzíeciecej AM w Białymstoku.

|January 1, 1996

Summary

This case study details Rubinstein-Taybi syndrome in a 1-year-old, highlighting symptoms like lacrimal duct obstruction and developmental delays. It also presents a treatment approach for this rare genetic disorder.

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Area of Science:

Medical Genetics
Pediatric Medicine
Developmental Biology

Background:

Rubinstein-Taybi syndrome (RTS) is a rare genetic disorder characterized by intellectual disability, distinctive facial features, and broad thumbs and toes.
Early diagnosis and intervention are crucial for managing the complex medical and developmental needs of affected individuals.

Observation:

A 1-year-old infant presented with symptoms consistent with Rubinstein-Taybi syndrome.
Key clinical manifestations included obstruction of the left lacrimal ducts, significant psychomotor retardation, and characteristic facial abnormalities.

Findings:

The case underscores the diverse phenotypic spectrum of Rubinstein-Taybi syndrome, even in infancy.
The described symptoms, including lacrimal duct obstruction and developmental delays, are recognized features of RTS.

Implications:

This case highlights the importance of recognizing subtle early signs of Rubinstein-Taybi syndrome for timely diagnosis.
Effective management strategies for RTS symptoms can improve developmental outcomes and quality of life for affected children.

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