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Table 3 Our proposal for medical guidelines in patients with RSTS

From: Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management

 

Diagnosis

6 M

1Y

18 M

2Y

30 M

>3Y (yearly)

Adolescent age

Brain and medullary NMR*

X

      

X

Neuropsychiatric evaluation

X

      

X

Audiologic evaluation

X

X

X

X

X

X

X

X

Ophtalmologic evaluation

X

X

 

X

 

X

X

X

Orthopedic evaluation

X

X

X

X

X

X

X

X

Cardiologic evaluation*

X

      

X

Pressure measurement

      

X

X

Renal US scan*

X

      

X

Odonthoiatric evaluation

  

X

X

X

X

X

X

Endocrinological evaluation*

X

    

X

 

X

Dermatologic evaluation*

X

      

X

Genetic counseling

X

      

X

  1. M = months, Y = years.
  2. *Follow-up if necessary.