Dermatologic Manifestations of Rubinstein-Taybi Syndrome Workup

Updated: Jun 20, 2018
  • Author: Zeljko P Mijuskovic, MD, PhD; Chief Editor: William D James, MD  more...
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Workup

Imaging Studies

The types of imaging studies performed depend on the clinical manifestations of the patient. For example, a patient with skeletal abnormalities requires further radiologic investigations, such as CT scanning and MRI.

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Other Tests

Note the following:

  • Chromosomal karyotype analysis - To investigate for the presence of structural abnormalities

  • Fluorescence in situ hybridization - To detect microdeletions of the CBP gene on band 16p13

  • Mutation analysis of the CBP gene

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Procedures

Note the following:

  • Electrocardiogram, echocardiogram, and examination by a pediatric cardiologist [26]

  • Radiologic investigations for patients with skeletal abnormalities

  • Renal ultrasonography and consideration of a voiding cystourethrogram

  • Hearing evaluation

  • Neurologic evaluation for patients with a seizure disorder

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