9295852

Source:http://linkedlifedata.com/resource/pubmed/id/9295852

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0013384, umls-concept:C0025958, umls-concept:C0684224, umls-concept:C0868928, umls-concept:C1261175
pubmed:issue	8
pubmed:dateCreated	1997-10-29
pubmed:abstractText	We present two clinically diagnosed cases of pontocerebellar hypoplasia with microcephaly and dyskinesia (pontocerebellar hypoplasia type 2) from two different Portuguese families. Both children presented neurological involvement from birth, progressive microcephaly, exuberant chorea and dystonia, myoclonic jerks, pontocerebellar hypoplasia, and progressive cerebral cortical atrophy. One child had consanguineous parents.
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/0006761
pubmed:citationSubset	IM
pubmed:status	MEDLINE
pubmed:month	Aug
pubmed:issn	0012-1622
pubmed:author	pubmed-author:BarboyNN, pubmed-author:CarneiroGG, pubmed-author:MeloJJ
pubmed:issnType	Print
pubmed:volume	39
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	554-7
pubmed:dateRevised	2009-11-11
pubmed:meshHeading	pubmed-meshheading:9295852-Atrophy, pubmed-meshheading:9295852-Cerebellopontine Angle, pubmed-meshheading:9295852-Cerebral Cortex, pubmed-meshheading:9295852-Child, pubmed-meshheading:9295852-Chorea, pubmed-meshheading:9295852-Female, pubmed-meshheading:9295852-Humans, pubmed-meshheading:9295852-Magnetic Resonance Imaging, pubmed-meshheading:9295852-Microcephaly, pubmed-meshheading:9295852-Movement Disorders
pubmed:year	1997
pubmed:articleTitle	Pontocerebellar hypoplasia with microcephaly and dyskinesia: report of two cases.
pubmed:affiliation	Serviço de Neuropediatria, Hospital Maria Pia, Porto, Portugal.
pubmed:publicationType	Journal Article, Case Reports