缺指（趾）-外胚层发育不良-裂综合征（EEC）：1例伴口周乳头状瘤病的病例报告。
Ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC): report of a case with perioral papillomatosis.
作者信息
Fernandes Bárbara, Ruas Evelina, Machado Alvaro, Figueiredo Américo
机构信息
Department of Dermatology, Hospitais da Universidade de Coimbra, Coimbra, Portugal.
出版信息
Pediatr Dermatol. 2002 Jul-Aug;19(4):330-2. doi: 10.1046/j.1525-1470.2002.00094.x.
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.
我们报告了一名13岁男孩，患有外胚层发育不良、缺指（趾）并指（趾）畸形、尿道下裂、畏光、传导性听力损失和口周乳头状瘤病。他的父亲有缺指（趾）畸形和毛发稀少。临床表现提示为缺指（趾）-外胚层发育不良-腭裂（EEC）综合征。口周乳头状瘤病通常见于戈尔茨综合征，此前仅在EEC综合征中有过一次报道。
Zotero 插件