Macrocephaly-cutis marmorata telangiectatica congenita: Seven cases including two with unusual cerebral manifestations
Article first published online: 21 OCT 2003
Copyright © 2003 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 126A, Issue 1, pages 99–103, 1 April 2004
How to Cite
Giuliano, F., David, A., Edery, P., Sigaudy, S., Bonneau, D., Cormier-Daire, V. and Philip, N. (2004), Macrocephaly-cutis marmorata telangiectatica congenita: Seven cases including two with unusual cerebral manifestations. Am. J. Med. Genet., 126A: 99–103. doi: 10.1002/ajmg.a.20551
- Issue published online: 15 MAR 2004
- Article first published online: 21 OCT 2003
- Manuscript Accepted: 10 JUL 2003
- Manuscript Received: 27 DEC 2002
- capillary malformation;
- nevus flammeus;
- cortical dysplasia;
- vascular malformation;
Macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) is a recently described multiple congenital anomaly/mental retardation (MCA/MR) syndrome of unknown cause. This condition is easily recognizable at birth in children with macrocephaly, cutis marmorata, face and/or body segmental overgrowth, toe syndactyly, midface capillary malformation, and hemimegalencephaly. Cutis marmorata may be absent in some cases. Most patients are developmentally delayed. We describe seven new patients, including two with unusual cerebral manifestations and severe outcome. One of two had a complex congenital heart defect (CHD) and died in the neonatal period. Brain magnetic resonance imaging (MRI) showed generalized cortical dysplasia. The other patient had a stroke episode at age 14 years. Cerebral arteriography showed an abnormal vascular pattern. These findings are consistent with the fact that M-CMTC is a generalized vasculopathy. © 2003 Wiley-Liss, Inc.