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Related Experiment Videos

[Rubinstein-Taybi syndrome].

Slobodanka Grković, Milos Jesić, Maja Jesić

    Srpski Arhiv Za Celokupno Lekarstvo
    |December 24, 2004
    PubMed
    Summary

    Rubinstein-Taybi syndrome, a rare genetic disorder, affects approximately 1 in 10,000 newborns. This case study highlights a one-month-old male diagnosed with characteristic features, with future surgical and developmental plans.

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    Area of Science:

    • Medical Genetics
    • Pediatric Malformations
    • Clinical Dysmorphology

    Background:

    • Rubinstein-Taybi syndrome (RTS) is a rare genetic disorder with an incidence of approximately 1 in 10,000 live births.
    • Diagnosis typically relies on distinctive facial features and limb abnormalities observed in the neonatal period.
    • Understanding the genetic basis and clinical spectrum of RTS is crucial for early intervention.

    Observation:

    • This report details a male infant diagnosed with Rubinstein-Taybi syndrome at one month of age.
    • The patient presented with all hallmark clinical manifestations of the syndrome.
    • The case underscores the importance of recognizing characteristic dysmorphic features for timely diagnosis.

    Findings:

    • The diagnosis of Rubinstein-Taybi syndrome was confirmed in a one-month-old male infant.
    • The infant exhibited the classic clinical phenotype associated with RTS.
    • This presentation aligns with established diagnostic criteria for the syndrome.

    Implications:

    • Early diagnosis of Rubinstein-Taybi syndrome facilitates prompt management and intervention.
    • Planned interventions include corrective surgery and monitoring of psychomotor development.
    • This case contributes to the understanding of RTS clinical presentation and management strategies.

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