Table 4.

Recommended Evaluations Following Initial Diagnosis in Individuals with Snyder-Robinson Syndrome

System/ConcernEvaluationComment
Development Developmental assessment
  • To incl motor, adaptive, cognitive, & speech/language eval
  • Eval for early intervention / special education
Constitutional Weight, length/height, & head circumferenceAssess for evidence of short stature, macrocephaly.
Cleft palate Clinical eval incl feeding assessment
Musculoskeletal Bone density assessment by DXA scanTo determine degree of osteoporosis & need for calcium supplements or bisphosphonates 1
Clinical eval for kyphoscoliosisConsider radiographic scoliosis survey based on clinical suspicion & referral for orthopedic surgery as appropriate.
Neurologic Neurologic eval
  • Assessment for hypotonia
  • To incl brain MRI to assess abnormal calcification &/or brain abnormalities
  • Consider EEG if seizures are a concern.
Genitourinary Renal ultrasoundTo assess for renal abnormalities (rare)
Miscellaneous/
Other 		Consultation w/clinical geneticist &/or genetic counselorTo incl genetic counseling

DXA = dual-energy x-ray absorptiometry

1.

Bisphosphonates have been used for osteoporosis in general; their efficacy in Snyder-Robinson syndrome has not been demonstrated, and initial evidence of efficacy is controversial.

From: Snyder-Robinson Syndrome

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