Korean J Pediatr.
2009 Jun;52(6):701-704. 10.3345/kjp.2009.52.6.701.
Two cases of Smith-Magenis syndrome
- Affiliations
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- 1Department of Pediatrics, Korea University College of Medicine, Seoul, Korea. bleun@chollian.net
- 2Department of Laboratory Medicine, Korea University College of Medicine, Seoul, Korea.
- KMID: 2281076
- DOI: http://doi.org/10.3345/kjp.2009.52.6.701
Abstract
- SmithMagenis syndrome (SMS) is a rare disorder with multiple congenital anomalies caused by a heterozygous interstitial deletion involving chromosome 17p11.2, where the retinoic acid-induced 1 (RAI1) gene is located, or by a mutation of RAI1. Approximately 90% of the patients with SMS have a detectable 17p11.2 microdeletion on fluorescence in-situ hybridization (FISH). SMS is characterized by mental retardation, distinctive behavioral features, craniofacial and skeletal anomalies, speech and developmental delay, and sleep disturbances. Although there are some intervention strategies that help individuals with SMS, there are no reported specific interventions for improving the outcome in children with SMS. Here, we report two cases of SmithMagenis syndrome.
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