A Case of Smith-Magenis Syndrome with Multiple Organ Malformations
Neonatal Medicine
;
: 49-52, 2017.
Artículo
en Inglés
| WPRIM
| ID: wpr-32563
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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Tetralogía de Fallot
/
Sistema Urinario
/
Cromosomas Humanos Par 17
/
Encéfalo
/
Sistema Cardiovascular
/
Cisterna Magna
/
Síndrome de Smith-Magenis
/
Corazón
/
Corea (Geográfico)
Límite:
Humanos
País/Región como asunto:
Asia
Idioma:
Inglés
Revista:
Neonatal Medicine
Año:
2017
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS