Cutis marmorata telangiectatica congenita

Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin.

Hemihypertrophy

Overgrowth of only one side of the body.


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PMID (PMCID)
14629912
 FEMALE Child
Cutaneous manifestations and the Chiari I malformation.
Tubbs RS, Smyth MD, Wellons JC, Blount JP, Oakes WJ.
Pediatr Neurol. 2003;29(3):250-2.
In addition to cutis marmorata telangiectatica congenita and Chiari I malformation, our patient exhibited hemihypertrophy, Tourette's syndrome, scoliosis, obsessive-compulsive disorder, and seizures.
11477607
 MIXED_SAMPLE Infant
Association of arrhythmia and sudden death in macrocephaly-cutis marmorata telangiectatica congenita syndrome.
Yano S, Watanabe Y.
Am J Med Genet. 2001;102(2):149-52.
Macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) constitutes a distinct entity characterized by prenatal overgrowth, macrosomia, hemihypertrophy, macrocephaly, nonobstructive hydrocephaly, frontal bossing, hypotonia, developmental delay, generalized or facial capillary malformation with upper philtral nevus flammeus and cutis marmorata, joint hypermobility, loose skin, toe syndactyly, and postaxial polydactyly.