Two cases of Smith-Magenis syndrome.
10.3345/kjp.2009.52.6.701
- Author:
Seong Kwan JUNG
1
;
Kyu Hee PARK
;
Hae Kyung SHIN
;
So Hee EUN
;
Baik Lin EUN
;
Kee Hwan YOO
;
Young Sook HONG
;
Joo Won LEE
;
Sook Young BAE
Author Information
1. Department of Pediatrics, Korea University College of Medicine, Seoul, Korea. bleun@chollian.net
- Publication Type:Case Report
- Keywords:
Smith-Magenis syndrome;
Chromosomal study;
Fluorescence in-situ hybridization
- MeSH:
Child;
Chimera;
Fluorescence;
Humans;
Intellectual Disability;
Smith-Magenis Syndrome
- From:Korean Journal of Pediatrics
2009;52(6):701-704
- CountryRepublic of Korea
- Language:English
-
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.
