American Journal of Medical Genetics 42:276-280 (1992)
Brief Clinical Report Ectodermal Dy splasia, Ectrodactyly, Clefting, Anophthalmia/Microphthalmia,and Genitourinary Anomalies: Nosology of Goltz-Gorlin Syndrome Versus EEC Syndrome E.S.O. Rodini, A. Nardi, M.L. Guion-Almeida,A. Richieri-Costa Seruko de Gene'tica Clinica, Hospital de Pesquisa e Reabilitaqio de Les6es Llibio-Palatais, Universidn.de de Scio Paul0 (E.S.O.R., A.N., M.L.C.-A., A.R.-C.),Departamento de Csncias Biol6gicas, Universidade Estadual Paulista (E.S.O.R.), Bauru, SP, B r a d We report on two unrelated Brazilian girls born to normal and nonconsanguineousparents 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. KEY WORDS: MCA/malformationsyndromes, X-linked inheritance, GoltzGorlin syndrome INTRODUCTION Ectodermal anomalies, acral defects, clefting, and genitourinary anomalies are common signs of the EEC and Goltz-Gorlin syndrome [Rudiger et al., 1970;Rodini and Richieri-Costa, 1990;Goltz et al., 1970;Gorlin et al., 19901. The pattern of inheritance and some cardinal signs usually distinguish these conditions. Here, we report on two girls with ectodermal dysplasia, clefting, microlanophthalmia, acral defects, and genitourinary anomalies. Neuropsychological development and histological studies were normal. The cluster of anomalies in these patients prompts nosological considerations of the Goltz-Gorlin and the EEC syndrome.
normal husband. The vertex delivery was spontaneous. Birth weight was 3,180 g (>25th centile), birth length was 48 cm (
Brief Clinical Report Ectodermal Dy splasia, Ectrodactyly, Clefting, Anophthalmia/Microphthalmia,and Genitourinary Anomalies: Nosology of Goltz-Gorlin Syndrome Versus EEC Syndrome E.S.O. Rodini, A. Nardi, M.L. Guion-Almeida,A. Richieri-Costa Seruko de Gene'tica Clinica, Hospital de Pesquisa e Reabilitaqio de Les6es Llibio-Palatais, Universidn.de de Scio Paul0 (E.S.O.R., A.N., M.L.C.-A., A.R.-C.),Departamento de Csncias Biol6gicas, Universidade Estadual Paulista (E.S.O.R.), Bauru, SP, B r a d We report on two unrelated Brazilian girls born to normal and nonconsanguineousparents 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. KEY WORDS: MCA/malformationsyndromes, X-linked inheritance, GoltzGorlin syndrome INTRODUCTION Ectodermal anomalies, acral defects, clefting, and genitourinary anomalies are common signs of the EEC and Goltz-Gorlin syndrome [Rudiger et al., 1970;Rodini and Richieri-Costa, 1990;Goltz et al., 1970;Gorlin et al., 19901. The pattern of inheritance and some cardinal signs usually distinguish these conditions. Here, we report on two girls with ectodermal dysplasia, clefting, microlanophthalmia, acral defects, and genitourinary anomalies. Neuropsychological development and histological studies were normal. The cluster of anomalies in these patients prompts nosological considerations of the Goltz-Gorlin and the EEC syndrome.
normal husband. The vertex delivery was spontaneous. Birth weight was 3,180 g (>25th centile), birth length was 48 cm (
