Smith-Magenis Syndrome (SMS) 454i87e 454i87e 454i87e 454i87e 454i87e
General: Mental retardation, physical dysmorphia, and behavior abnormalities due to a deletion at chromosome l7pl1.2.
Ocular: High myopia; retinal detachment; iris anomalies (absent collarette, nasal corectopia, stromal dysplasia); microcornea; strabismus; iris nodules called Wolfflin-Kruckmann spots.
Clinical: Wolfflin-Kruckmann spots may be confused with Brushfield spots, which are seen only in Down syndrome patients.
Barnicoat AJ, et al. An unusual presentation of Smith-Magenis syndrome with iris dysgenesis. Clin Dysmorphol 1996; 5:153-l58.
DeRijk-van Andel JR, et al. Clinical and chromosome studies of three patients with Smith-Magenis syndrome. Dev Med Child Neurol 1991; 33:343-347.
Finecane BM, et al. Eye abnormalities in the Smith-Magenis contiguous gene deletion syndrome. Am J Med Genet 1993; 45:443-446.
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