Advanced Search
CASE REPORT
Korean J Pediatr 2009 June;52(6) :701-704.
doi:https://doi.org/10.3345/kjp.2009.52.6.701
Two cases of Smith-Magenis syndrome
Seong Kwan Jung (Jung SK)1, Kyu Hee Park (Park KH)1, Hae Kyung Shin (Shin HK)1, So Hee Eun (Eun SH)1, Baik-Lin Eun (Eun BL)1, Kee Hwan Yoo (Yoo KH)1, Young Sook Hong (Hong YS)1, Joo Won Lee (Lee JW)1, Sook Young Bae (Bae SY)2
1Department of Pediatrics, Korea University College of Medicine, Seoul, Korea
2Department of Laboratory Medicine, Korea University College of Medicine, Seoul, Korea
Corresponding Author: Baik-Lin Eun ,Email: bleun@chollian.net, bleun@korea.ac.kr
Copyright © 2009 by The Korean Pediatric Society
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
TOOLS
PDF Links  PDF Links
Full text via DOI  Full text via DOI
Download Citation  Download Citation
Supplementary Material  Supplementary Material
  E-Mail
  Print
Share:      
METRICS
1,605
View
4
Download
A pediatric case of idiopathic Harlequin syndrome  2016 November;59(11)
Complications of nephrotic syndrome  2011 August;54(8)
A case of McKusick-Kaufman syndrome  2011 May;54(5)
Two adolescent cases of Fitz-Hugh-Curtis syndrome  2009 September;52(9)
A case of mosaic ring chromosome 13 syndrome  2009 February;52(2)
Register for e-submission
Register here to access the e-submission system of Korean J Pediatr for authors and reviewers.
Manuscript Submission
To submit a manuscript, please visit the Korean J Pediatr e-submission management system at http://submit.kjp.or.kr, read the Instructions for Authors, and log into the Korean J Pediatr e-submission system. For assistance with manuscript submission, please contact: kjpped@gmail.com.
Free archive
Anyone may access any past or current articles without logging in.
Korean Pediatric Society Office
#1606, Seocho World Officetel, 19 Seoun-ro, Seocho-gu, Seoul 137-070, Korea
TEL : +82-2-3473-7305    FAX : +82-2-3473-7307   E-mail: kjpped@gmail.com
BrowseCurrent IssueFor Authors and ReviewersAbout
Copyright© The Korean Pediatric Society. All right reserved.