Ectodermal dysplasia, ectrodactyly, clefting, anophthalmia/microphthalmia, and genitourinary anomalies: nosology of Goltz-Gorlin syndrome versus EEC syndrome.
We report on two unrelated Brazilian girls born to normal and nonconsanguineous parents and presenting ectodermal dysplasia, ectrodactyly, clefting, tear duct anomalies, and micro/anophthalmia. The clinical picture presented by these patients suggests the diagnosis of Goltz-Gorlin (Focal dermal hypoplasia) syndrome and EEC syndrome.
Rodini
E S
ES
Serviço de Genética Clínica, Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais, Universidade de São Paulo, Brasil.
Nardi
A
A
Guion-Almeida
M L
ML
Richieri-Costa
A
A
D000015:Abnormalities, Multiple; D002648:Child; D004476:Ectodermal Dysplasia / Q000150:complications*; D005124:Eye Abnormalities / Q000150:complications; D005260:Female; D005489:Focal Dermal Hypoplasia / Q000145:classification*; D006801:Humans; D007223:Infant; D017880:Limb Deformities, Congenital; D009056:Mouth Abnormalities / Q000150:complications; D013577:Syndrome; D014564:Urogenital Abnormalities