Smith-Magenis syndrome: systemic features
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Smith-Magenis syndrome: systemic features. Brachycephaly, Brachydactyly, Congenital anomalies. Fully referenced neurology checklist.
Skeletal features
- Brachycephaly
- Brachydactyly
- Congenital anomalies
Ophthalmic features
Locked: subscribe to see this section.
Autoimmune disorders
Locked: subscribe to see this section.
Cardiovascular features
Locked: subscribe to see this section.
Other features
Locked: subscribe to see this section.
References
- Gropman AL, Duncan WC, Smith AC. Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2). Pediatr Neurol 2006; 34:337-350.
- Chen RM, Lupski JR, Greenberg F, Lewis RA. Ophthalmic manifestations of Smith-Magenis syndrome. Ophthalmology 1996; 103:1084-1091.
- 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.
- Jefferies JL, Pignatelli RH, Martinez HR, et al. Cardiovascular findings in duplication 17p11.2 syndrome. Genet Med 2012; 14:90-94.
