Smith-Magenis Syndrome-like

MedGen UID:: 893101
•Concept ID:: CN238491
•: Disease or Syndrome

Recent clinical studies

Diagnosis

Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2).

Gropman AL, Duncan WC, Smith AC
Pediatr Neurol 2006 May;34(5):337-50. doi: 10.1016/j.pediatrneurol.2005.08.018. PMID: 16647992

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Therapy

Clinical improvement of the aggressive neurobehavioral phenotype in a patient with a deletion of PITX3 and the absence of L-DOPA in the cerebrospinal fluid.

Derwińska K, Mierzewska H, Goszczańska A, Szczepanik E, Xia Z, Kuśmierska K, Tryfon J, Kutkowska-Kaźmierczak A, Bocian E, Mazurczak T, Obersztyn E, Stankiewicz P
Am J Med Genet B Neuropsychiatr Genet 2012 Mar;159B(2):236-42. Epub 2012 Jan 5 doi: 10.1002/ajmg.b.32020. PMID: 22223473

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