Source:http://linkedlifedata.com/resource/pubmed/id/18058629
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
4
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| pubmed:dateCreated |
2007-12-6
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| pubmed:abstractText |
Megalencephaly (MEG), or enlargement of the brain, can either represent a familial variant with normal cerebral structure, or a rare brain malformation associated with developmental delay and neurological problems. MEG has been split into two subtypes: anatomical and metabolic. The latter features a build-up inside the cells owing to metabolic causes. Anatomical MEG has been detected in many different conditions, including many overgrowth syndromes. In 2004 Mirzaa et al. reported five non-consanguineous patients with a new MCA/MR syndrome characterized by severe congenital MEG with polymicrogyria (PMG), postaxial polydactyly (POLY) and hydrocephalus (HYD). The authors argued that these findings identified a new and distinct malformation syndrome, which they named MPPH. We report on a new case of MPPH, the first to be described after the original series (Mirzaa et al., 2004).
|
| pubmed:language |
eng
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| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
|
| pubmed:month |
Aug
|
| pubmed:issn |
0174-304X
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| pubmed:author |
pubmed-author:AlbertiniEE,
pubmed-author:AmarriSS,
pubmed-author:BanchiniGG,
pubmed-author:BergonziniPP,
pubmed-author:DobynsW BWB,
pubmed-author:ErricoSS,
pubmed-author:FrigieriGG,
pubmed-author:GaravelliLL,
pubmed-author:GiustinaE DellaED,
pubmed-author:GuareschiEE,
pubmed-author:GurrieriFF,
pubmed-author:ManciniG MGM,
pubmed-author:NeriGG,
pubmed-author:SchotRR,
pubmed-author:SimoniAA,
pubmed-author:Van Der SpekP JPJ,
pubmed-author:ZollinoMM,
pubmed-author:ZonariPP
|
| pubmed:issnType |
Print
|
| pubmed:volume |
38
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
200-3
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| pubmed:meshHeading |
pubmed-meshheading:18058629-Brain,
pubmed-meshheading:18058629-Developmental Disabilities,
pubmed-meshheading:18058629-Female,
pubmed-meshheading:18058629-Humans,
pubmed-meshheading:18058629-Hydrocephalus,
pubmed-meshheading:18058629-Infant,
pubmed-meshheading:18058629-Magnetic Resonance Imaging,
pubmed-meshheading:18058629-Malformations of Cortical Development,
pubmed-meshheading:18058629-Polydactyly,
pubmed-meshheading:18058629-Tomography, X-Ray Computed
|
| pubmed:year |
2007
|
| pubmed:articleTitle |
Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new case.
|
| pubmed:affiliation |
Department of Pediatrics and Genetic Unit, S. Maria Nuova Hospital, Reggio Emilia, Italy. garavelli.livia@asmn.re.it
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| pubmed:publicationType |
Journal Article,
Case Reports
|