Which specialist consultations are beneficial to patients with Silver-Russell syndrome (SRS)?

Updated: Feb 11, 2019
  • Author: Sunil Kumar Sinha, MD; Chief Editor: Luis O Rohena, MD, MS, FAAP, FACMG  more...
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Answer

See the list below:

  • Consult a clinical geneticist to differentiate Silver-Russell syndrome from etiologies of growth retardation, asymmetry, and other clinical findings.

  • Consult a gastroenterologist or nutritionist to optimize caloric intake and enhance growth and feeding therapy.

  • Developmental evaluation places the patient in early intervention, special education programs, physical therapy, and occupational therapy as early as possible.

  • Consult a pediatric endocrinologist to consider the use of rhGH in an infant nearing age 2 years who has not manifested adequate catch-up growth. Other endocrine issues that need close monitoring include premature adrenarche and precocious puberty. 

  • Consult an ophthalmologist to identify refractive errors and other abnormalities of vision commonly associated with Silver-Russell syndrome.

  • Consult a neurologist if there is any concern that myoclonus dystonia, commonly seen in mUPD7, is present. 

  • Monitor scoliosis and consult an orthopedist, especially if the child is on growth hormone therapy. 


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