Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea / 소아과
Korean Journal of Pediatrics
;
: S152-S156, 2016.
Article
Dans Anglais
| WPRIM
| ID: wpr-118686
ABSTRACT
Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP), previously known as macrocephaly-cutis marmorata telangiectatica congenita and macrocephaly-capillary malformation syndrome, is a rare multiple-malformation syndrome that is characterized by progressive megalencephaly, capillary malformations of the midline face and body, or distal limb anomalies such as syndactyly. Herein, we report a female infant case that satisfies the recently proposed criteria of MCAP and describe the distinctive neuroradiological and morphological features. We have also reviewed recently published reports and the diagnostic criteria proposed by various authors in order to facilitate the clinical diagnosis of these children in pediatric neurology clinics.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Vaisseaux capillaires
/
Syndactylie
/
Diagnostic
/
Membres
/
Mégalencéphalie
/
Polymicrogyrie
/
Hypertrophie
/
Corée
/
Neurologie
Type d'étude:
Etude diagnostique
Limites du sujet:
Enfant
/
Femelle
/
Humains
/
Bébé
Pays comme sujet:
Asie
langue:
Anglais
Texte intégral:
Korean Journal of Pediatrics
Année:
2016
Type:
Article
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