A Case of Smith-Magenis Syndrome with Multiple Organ Malformations
Neonatal Medicine
;
: 49-52, 2017.
Article
Dans Anglais
| 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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Tétralogie de Fallot
/
Voies urinaires
/
Chromosomes humains de la paire 17
/
Encéphale
/
Système cardiovasculaire
/
Citerne cérébellomédullaire postérieure
/
Syndrome de Smith-Magenis
/
Coeur
/
Corée
Limites du sujet:
Humains
Pays comme sujet:
Asie
langue:
Anglais
Texte intégral:
Neonatal Medicine
Année:
2017
Type:
Article
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