Format

Send to

Choose Destination
See comment in PubMed Commons below
Ann Genet. 2004 Jul-Sep;47(3):261-5.

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

Author information

  • 1Department of Radiology, Osmangazi University Hospital Meselik, 26480 Eskisehir, Turkey. nevbahara@yahoo.com

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.

PMID:
15337471
DOI:
10.1016/j.anngen.2004.03.003
[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Elsevier Science
    Loading ...
    Support Center