{"title":"A case of macrocephaly-cutis marmorata telangiectatica congenita and review of neuroradiologic features","authors":"Nevbahar Akcar , Baki Adapinar , Cagri Dinleyici , Beyhan Durak , I.Ragıp Özkan","doi":"10.1016/j.anngen.2004.03.003","DOIUrl":null,"url":null,"abstract":"<div><p>Macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) is characterized by macrocephaly, cutis marmorata, capillary malformations, toe syndactily, joint laxity and pre-natal overgrowth. Cerebral abnormalities might also be seen. We reported cerebral magnetic resonance imaging (MRI) findings of a case with M-CMTC, who had giant atrial septal aneurysm and atrial septal defect. Cerebral alterations determined by MRI were bilateral prominent lateral ventricles, bilateral cortical dysplasia, cavum septi pellucidum cyst and calvarial hemangioma. At 17th day of his life he suddenly developed cardiorespiratory arrest and died.</p></div>","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2004-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.anngen.2004.03.003","citationCount":"21","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Annales de Génétique","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0003399504000322","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 21
Abstract
Macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) is characterized by macrocephaly, cutis marmorata, capillary malformations, toe syndactily, joint laxity and pre-natal overgrowth. Cerebral abnormalities might also be seen. We reported cerebral magnetic resonance imaging (MRI) findings of a case with M-CMTC, who had giant atrial septal aneurysm and atrial septal defect. Cerebral alterations determined by MRI were bilateral prominent lateral ventricles, bilateral cortical dysplasia, cavum septi pellucidum cyst and calvarial hemangioma. At 17th day of his life he suddenly developed cardiorespiratory arrest and died.
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