Smith-Magenis syndrome: systemic features

Evidence-based neurology checklist on smith-magenis syndrome: systemic features: Skeletal features Brachycephaly Brachydactyly Congenital anomalies Ophthalmic features Autoimmune disorders Cardiovascular features Other features

Skeletal features

  • Brachycephaly
  • Brachydactyly
  • Congenital anomalies

Ophthalmic features

Autoimmune disorders

Cardiovascular features

Other features

References

  1. Gropman AL, Duncan WC, Smith AC. Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2). Pediatr Neurol 2006; 34:337-350. 
  2. Chen RM, Lupski JR, Greenberg F, Lewis RA. Ophthalmic manifestations of Smith-Magenis syndrome. Ophthalmology 1996; 103:1084-1091.
  3. Yang J, Chandrasekharappa SC, Vilboux T, Smith AC, Peterson EJ. Immune complex-mediated autoimmunity in a patient With Smith-Magenis syndrome (del 17p11.2). J Clin Rheumatol 2014; 20:291-293.
  4. Jefferies JL, Pignatelli RH, Martinez HR, et al. Cardiovascular findings in duplication 17p11.2 syndrome. Genet Med 2012; 14:90-94.

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