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

• Author(s): Fernandes, B ; Ruas, E ; Machado, A ; Figueiredo, A
• Date: 2002
• Persistent ID: http://hdl.handle.net/10400.4/354
• Origin: Repositório do Centro Hospitalar e Universitário de Coimbra
• Subject(s): Anomalias Congénitas Múltiplas; Neoplasias da Boca; Sindactilia; Papiloma
• Document Type: Article
• Language: English

Description

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.