| Literature DB >> 15337471 |
Nevbahar Akcar1, Baki Adapinar, Cagri Dinleyici, Beyhan Durak, I Ragip Ozkan.
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.Entities:
Mesh：
Year: 2004 PMID： 15337471 DOI： 10.1016/j.anngen.2004.03.003
Source DB: PubMed Journal: Ann Genet ISSN： 0003-3995