Ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC): report of a case wit...

• Autor(es): Fernandes, B ; Ruas, E ; Machado, A ; Figueiredo, A
• Data: 2002
• Identificador Persistente: http://hdl.handle.net/10400.4/354
• Origem: Repositório do Centro Hospitalar e Universitário de Coimbra
• Assunto(s): Anomalias Congénitas Múltiplas; Neoplasias da Boca; Sindactilia; Papiloma
• Tipo de Documento: Artigo
• Idioma: Inglês

Descrição

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.