A Case of Smith-Magenis Syndrome with Multiple Organ Malformations.

Author: Sung Eun KIM ¹ ; Geonju KIM ; Jin Soon SUH ; Juyoung LEE
Author Information

1. Department of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul, Korea. frocner@catholic.ac.kr
Publication Type:Case Report
Keywords: Smith-Magenis syndrome; Tetralogy of Fallot; Cisterna magna; Renal agenesis
MeSH: Brain; Cardiovascular System; Chromosomes, Human, Pair 17; Cisterna Magna; Heart; Humans; Korea; Smith-Magenis Syndrome*; Tetralogy of Fallot; Urinary Tract
From:Neonatal Medicine 2017;24(1):49-52
CountryRepublic of Korea
Language:English
Abstract: Smith-Magenis syndrome (SMS) is a genetic disease caused by microdeletion of p11.2 in chromosome 17. SMS patients have characteristic facial features and accompanying congenital malformations involving the brain, cardiovascular system, and urinary tract. Compared with the distinctive facial characteristics, organ malformations are less common. Several cases of SMS with tetralogy of Fallot have been reported in Korea, none of which were accompanied by other organ malformations. We present the first case report in Korea of an SMS patient with malformations of the brain, heart, and urinary tract.