GENERIC 12072801

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0035335, umls-concept:C0205182, umls-concept:C1865285
pubmed:issue	3
pubmed:dateCreated	2002-6-19
pubmed:abstractText	We describe a boy presenting with macrosomy, body asymmetry, cutis marmorata and tall stature who developed a retinoblastoma. Although he does not have macrocephaly, his clinical picture is compatible with the diagnosis of Macrocephaly-cutis marmorata telangiectatica congenita syndrome (M-CMTC). Interestingly, retinoblastoma is not generally associated with overgrowth syndromes, and its occurrence in this patient suggests that M-CMTC is also a tumour-prone syndrome.
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/9207893
pubmed:citationSubset	IM
pubmed:status	MEDLINE
pubmed:month	Jul
pubmed:issn	0962-8827
pubmed:author	pubmed-author:FelixTêmis MTM, pubmed-author:RiegelMariluceM, pubmed-author:Schüler-FacciniLavíniaL, pubmed-author:SchwartzIda V DIV
pubmed:issnType	Print
pubmed:volume	11
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	199-202
pubmed:dateRevised	2006-11-15
pubmed:meshHeading	pubmed-meshheading:12072801-Abnormalities, Multiple, pubmed-meshheading:12072801-Child, Preschool, pubmed-meshheading:12072801-Eye Neoplasms, pubmed-meshheading:12072801-Humans, pubmed-meshheading:12072801-Male, pubmed-meshheading:12072801-Retinoblastoma, pubmed-meshheading:12072801-Telangiectasis
pubmed:year	2002
pubmed:articleTitle	Atypical macrocephaly-cutis marmorata telangiectatica congenita with retinoblastoma.
pubmed:affiliation	Clinical Hospital of Porto Alegre, Medical Genetics Service, Porto Alegre, Brazil.
pubmed:publicationType	Journal Article, Case Reports, Research Support, Non-U.S. Gov't