| 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. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
|
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Toys in the upper aerodigestive tract: Evidence on their risk as emerging from the ESFBI study.
Next Document: MRI of the prostate: Interobserver agreement compared with histopathologic outcome after radical pro...