Smith-Magenis syndrome

Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay.

Telecanthus

Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.


合計: 1

                       


（表示件数）
PMID (PMCID)
9856566
 MALE Adult
Visual impairment due to macular disciform scars in a 20-year-old man with Smith-Magenis syndrome: another ophthalmologic complication.
Babovic-Vuksanovic D, Jalal SM, Garrity JA, Robertson DM, Lindor NM.
Am J Med Genet. 1998;80(4):373-6.
Prior reports of Smith-Magenis syndrome mention telecanthus, ptosis, strabismus, iris anomalies, cataract, microcornea, optic nerve hypoplasia, myopia, retinal detachment, and lattice retinal degeneration.