A case of macrocephaly-cutis marmorata telangiectatica congenita and review of neuroradiologic features.

Akcar N. , Adapinar B., Dinleyici C. , Durak B. , Ozkan I.

Annales de genetique, vol.47, no.3, pp.261-5, 2004 (Journal Indexed in SCI Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 47 Issue: 3
  • Publication Date: 2004
  • Doi Number: 10.1016/j.anngen.2004.03.003
  • Title of Journal : Annales de genetique
  • Page Numbers: pp.261-5
  • Keywords: macrocephaly-cutis marmorata telangiectatica congenita, cutis marmorata telangiectatica congenita, cerebral magnetic resonance imaging, HEMANGIOMA


Macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) is characterized by macrocephaly, cutis marmorata, capillary malformations, toe syndactily, joint laxity and pre-natal over-growth. 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. (C) 2004 Elsevier SAS. All rights reserved.