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Cutis marmorata telangiectatica congenita: report of 18 cases

✍ Scribed by M.J.P. Gerritsen; P.M. Steijlen; H.G. Brunner; P. Rieu

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 236 KB
Volume: 142
Category: Article
ISSN: 0007-0963
DOI: 10.1046/j.1365-2133.2000.03311.x

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✦ Synopsis

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 comprising CMTC, a naevus flammeus at the upper lip/philtrum, macrocephaly and syndactyly, among other abnormalities. Findings in the other eight patients with associated abnormalities included hydrocephalus, hyperplasia/hypoplasia (body asymmetry), anal atresia, hearing loss, cardiovascular abnormalities, strabismus hypothyroidism, haemangioma, naevus anaemicus, café-au-lait spot, lipoma and an elevation of the right diaphragm. All cases were sporadic.

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