Two cases of Smith-Magenis syndrome / 소아과
Korean Journal of Pediatrics
;
: 701-704, 2009.
Article
Dans Anglais
| WPRIM
| ID: wpr-163691
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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Chimère
/
Syndrome de Smith-Magenis
/
Fluorescence
/
Déficience intellectuelle
Limites du sujet:
Enfant
/
Humains
langue:
Anglais
Texte intégral:
Korean Journal of Pediatrics
Année:
2009
Type:
Article
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