We present the results of ophthalmologic assessment in 10 patients with interstitial chromosome deletions of 17p11.2, otherwise known as the Smith-Magenis syndrome (SMS). The most common abnormalities noted were strabismus, Brushfield spots, high myopia, and retinal detachments. We have previously reported high myopia and retinal detachments in 6 patients with SMS (Finucane et al.: Am J Hum Genet 49:262A, 1991). We present additional details on these individuals, as well as findings in 4 newly reported patients. Ocular pathology appears to be very common in SMS, significantly contributing to disability in people with this syndrome. The combination of high myopia, self-injurious head-banging, aggression, and hyperactivity among these patients makes them particularly susceptible to retinal detachments. Detailed ophthalmologic assessment should be included in the clinical work-up and monitoring of all patients with SMS resulting from deletion 17p11.2.
We describe a 14-year-old boy with physical and behavioral manifestations of the Smith-Magenis syndrome. Low level mosaicism (11%) for deletion 17p11.2 was found in peripheral blood lymphocytes. The deletion was also observed in 100% of metaphases examined from skin fibroblast cultures. We confirm that the Smith-Magenis syndrome is associated with a highly recognizable phenotype. Because evidence of the abnormal cell line may be minimal or absent in peripheral blood, fibroblast studies are indicated for patients in whom mosaicism for deletion 17p11.2 is suspected clinically.
We present 2 unrelated children with a distinct pattern of anomalies, including mental retardation, hearing impairment, unusual facial appearance, and skeletal defects. Both children have severe behavior disturbance and hyperactivity. The characteristic facial findings include a broad mouth, broad nasal bridge, mildly anteverted nares with a fleshy nasal tip, and deep nasolabial folds. Skeletal findings include mild to moderate short stature, dysharmonic maturation of epiphyseal ossification centers in the hands, and mild scoliosis.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.