Ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC): report of a case with perioral papillomatosis

Fernandes, B; Ruas, E; Machado, A; Figueiredo, A

http://hdl.handle.net/10400.4/354

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Abstract(s)

We report a 13-year-old boy with ectodermal dysplasia, ectrodactyly, and syndactyly, hypospadias, photophobia, conductive hearing loss, and perioral papillomatosis. His father had ectrodactyly and hypotrichosis. The clinical picture suggested ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome. The presence of perioral papillomatosis, classically seen in Goltz syndrome, has been reported only once before in EEC syndrome.