All issues > Volume 52(6); 2009

Case Report

Korean J Pediatr. 2009;52(6):701-704. Published online June 15, 2009.

Two cases of Smith-Magenis syndrome

Seong Kwan SK Jung¹, Kyu Hee KH Park¹, Hae Kyung HK Shin¹, So Hee SH Eun¹, Baik-Lin BL Eun¹, Kee Hwan KH Yoo¹, Young Sook YS Hong¹, Joo Won JW Lee¹, Sook Young SY Bae²

¹Department of Pediatrics, Korea University College of Medicine, Seoul, Korea
²Department of Laboratory Medicine, Korea University College of Medicine, Seoul, Korea

Correspondence Baik-Lin BL Eun ,Email: bleun@chollian.net, bleun@korea.ac.kr

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.

Keywords :Smith-Magenis syndrome, Chromosomal study, Fluorescence in-situ hybridization