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(Macrocephaly-CMTC)
THE MEDICAL CONDITION HIGHLIGHTED AS BELOW:-
MACROCEPHALY-CUTIS MARMORATA TELANGIECTATICA CONGENITA
This is described as having cherry red macules, megalencephaly with hemifacial and segmental overgrowth, macrosomia, and cutis marmorata telangiectasia congenital of the trunk,and visceral and subcutaneous cavernous hemangiomas. The Macrocephaly is accompanied by MRI findings of CNS dysgenesis with protrusion of the cerebellar tonsils through the foremen magnam lumbar syrinx, and hydrops of the optic nerves.
Cutis marmorata telegiectatica congenital (CMTC) is a condition characterized by cutis marmorata, which is congenital generalized or segmental "marbled" or "mottled" skin appearance caused by prominent capillaries and veins, and vascular lesions characterised as telangiectasias, which resemble spider angiomas, and venous dilatation or phlebectasias.
The cause of M-CMTC is unknown and likely heterogeneous.
This Web-site is created for the family and friends of people associated with this condition to try and help them understand with the help from others the complexities of these special children.
Due to the rareity of the condition/syndrome the Web-site will be updated each time a new case is received with the relevant/appropriate data.
FOR ANY INFORMATION ON THIS WEB-SITE CONTACT KEITH on keith@macrocephaly-cmtc.com
- Created - June 2002
- Updated - November 2007