Genetics of Rubinstein-Taybi Syndrome Workup

Updated: Sep 12, 2016
  • Author: Keith K Vaux, MD; Chief Editor: Luis O Rohena, MD, FAAP, FACMG  more...
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Workup

Approach Considerations

The following tests are used in the diagnosis and monitoring of Rubinstein-Taybi syndrome (RSTS):

  • Microarray
  • Whole exome sequencing (WES) 
  • Targeted sequencing of  CBP and EP300
  • Electroencephalogram - Strongly consider even in the absence of seizures
  • Measurement of growth and plotting of parameters on published syndrome-specific growth charts [8]
  • Ophthalmologic examination
  • Hearing evaluation in newborn period and auditory brainstem evoked response testing 
  • Regular dental evaluations
  • Echocardiogram
  • Monitoring for constipation 
  • Monitoring for cryptorchidism in males
  • Specialty orthopedic assessment of thumbs and toes
  • Ongoing scoliosis evaluation
  • Monitoring for obstructive sleep apnea
  • Tethered cord evaluation - Neonatal ultrasonography of the spinal canal in all patients; magnetic resonance imaging (MRI) in symptomatic older patients

 

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Imaging Studies

 

These include the following:

  • Ongoing scoliosis and spinal abnormalities evaluation
  • MRI if indicated by neuroexamination [12]
  • Echocardiogram or cardiology evaluation
  • Chest radiograph if pulmonary symptoms
  • Tethered cord evaluation - Neonatal ultrasonography of the spinal canal in all patients; MRI in symptomatic older patients
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Other Tests

These include the following:

  • Chromosomal karyotype analysis
  • Fluorescence in situ hybridization (FISH) for chromosome band 16p13 [13]
  • Mutation analysis of the CBP gene
  • Electrocardiogram for cardiac investigation for congenital heart disease
  • Neurologic evaluation
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