Document Detail


Macrocephaly-capillary malformation syndrome: Description of a case and review of clinical diagnostic criteria.
MedLine Citation:
PMID:  21354731     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Macrocephaly-capillary malformation (M-CM) is characterized by prenatal overgrowth, variable somatic and cerebral asymmetry, primary megalencephaly, characteristic facial features, an abnormal neurocognitive profile and cutaneous vascular malformations. It was previously known under the name macrocephaly-cutis marmorata telangiectatica congenital (M-CMTC). However a recent review of the previously reported cases has suggested that the vascular anomalies are not true CMTC but rather capillary malformations. The diagnosis is primary clinical and different criteria have been proposed for this purpose. However, M-CM is frequently associated with structural brain abnormalities that should be properly investigated and monitored because of their possible progressive development. We report the neuroradiological and morphological features observed in a girl with M-CM and we compared them with proposed diagnostic criteria found in the literature.
Authors:
Laura Papetti; Luigi Tarani; Francesco Nicita; Martino Ruggieri; Chiara Mattiucci; Francesca Mancini; Fabiana Ursitti; Alberto Spalice
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-2-25
Journal Detail:
Title:  Brain & development     Volume:  -     ISSN:  1872-7131     ISO Abbreviation:  -     Publication Date:  2011 Feb 
Date Detail:
Created Date:  2011-2-28     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7909235     Medline TA:  Brain Dev     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2011 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
Affiliation:
Department of Pediatrics, Child Neurology Division, Sapienza University of Rome, Italy.
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