Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea / 소아과
Korean Journal of Pediatrics
; : S152-S156, 2016.
Article
in En
| WPRIM
| ID: wpr-118686
Responsible library:
WPRO
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.
Key words
Full text:
1
Database:
WPRIM
Main subject:
Capillaries
/
Syndactyly
/
Diagnosis
/
Extremities
/
Megalencephaly
/
Polymicrogyria
/
Hypertrophy
/
Korea
/
Neurology
Type of study:
Diagnostic_studies
Limits:
Child
/
Female
/
Humans
/
Infant
Country/Region as subject:
Asia
Language:
En
Journal:
Korean Journal of Pediatrics
Year:
2016
Document type:
Article