Cutis marmorata telangiectatica congenita: report of 18 cases

We report 18 patients with cutis marmorata telangiectatica congenita (CMTC) who visited the University Hospital Nijmegen between 1982 and 1999, In 11 patients (61%), associated abnormalities of varying severity were observed. Three of these patients had a previously described distinct syndrome compr ising CMTC, a naevus flammeus at the upper lip/philtrum, macrocephaly and s yndactyly, among other abnormalities. Findings in the other eight patients with associated abnormalities included hydrocephalus, hyperplasia/hypoplasi a (body asymmetry), anal atresia, hearing loss, cardiovascular abnormalitie s, strabismus hypothyroidism, haemangioma, naevus anaemicus, cafe-au-lait s pot, lipoma and an elevation of the right diaphragm. All cases were sporadi c.