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- W2055228999 abstract "A 21-year-old Black South African man with clinical features of ectrodactyly, ectodermal dysplasia, cleft lip/palate (EEC) syndrome is described. The patient had the following anomalies: hypoplastic, peg-shaped teeth; fine, silky hair; absent lacrimal puncta resulting in secondary photophobia, blepharitis and corneal opacities. The hands and feet showed absent digits, symphalangism and displacement of bone consistent with ectrodactyly. In addition, the patient had extensive comedone naevus, a feature not previously reported in EEC syndrome. We stress that the dysplastic ectodermal features of EEC syndrome are not typical of either hidrotic or anhidrotic ectodermal dysplasia but fall into a class of their own. Clefting of the lip and palate were absent due, it is postulated, to the variable expressivity of EEC syndrome." @default.
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- W2055228999 date "1984-01-01" @default.
- W2055228999 modified "2023-10-04" @default.
- W2055228999 title "A Newly Recognized Feature of Ectrodactyly, Ectodermal Dysplasia, Clefting (EEC) Syndrome: Comedone naevus" @default.
- W2055228999 doi "https://doi.org/10.1159/000249573" @default.
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