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

Kim,  Sung Eun; Kim,  Geonju; Suh,  Jin Soon; Lee,  Juyoung

doi:2017.24.1.49

Neonatal Med > Volume 24(1); 2017 > Article

Case Report

Neonatal Medicine 2017;24(1):49-52.
DOI: https://doi.org/10.5385/nm.2017.24.1.49 Published online February 28, 2017.

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

Sung Eun Kim, Geonju Kim, Jin Soon Suh, Juyoung Lee

Department of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul, Korea. frocner@catholic.ac.kr

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.

Key Words: Smith-Magenis syndrome; Tetralogy of Fallot; Cisterna magna; Renal agenesis