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Ectodermal dysplasia, ectrodactyly, clefting, anophthalmia/microphthalmia, and genitourinary anomalies: nosology of Goltz-Gorlin syndrome versus EEC syndrome.
Am J Med Genet. 1992 Feb 01; 42(3):276-80.AJ

Abstract

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.

Authors+Show Affiliations

Serviço de Genética Clínica, Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais, Universidade de São Paulo, Brasil.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

1536161

Citation

Rodini, E S., et al. "Ectodermal Dysplasia, Ectrodactyly, Clefting, Anophthalmia/microphthalmia, and Genitourinary Anomalies: Nosology of Goltz-Gorlin Syndrome Versus EEC Syndrome." American Journal of Medical Genetics, vol. 42, no. 3, 1992, pp. 276-80.
Rodini ES, Nardi A, Guion-Almeida ML, et al. Ectodermal dysplasia, ectrodactyly, clefting, anophthalmia/microphthalmia, and genitourinary anomalies: nosology of Goltz-Gorlin syndrome versus EEC syndrome. Am J Med Genet. 1992;42(3):276-80.
Rodini, E. S., Nardi, A., Guion-Almeida, M. L., & Richieri-Costa, A. (1992). Ectodermal dysplasia, ectrodactyly, clefting, anophthalmia/microphthalmia, and genitourinary anomalies: nosology of Goltz-Gorlin syndrome versus EEC syndrome. American Journal of Medical Genetics, 42(3), 276-80.
Rodini ES, et al. Ectodermal Dysplasia, Ectrodactyly, Clefting, Anophthalmia/microphthalmia, and Genitourinary Anomalies: Nosology of Goltz-Gorlin Syndrome Versus EEC Syndrome. Am J Med Genet. 1992 Feb 1;42(3):276-80. PubMed PMID: 1536161.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Ectodermal dysplasia, ectrodactyly, clefting, anophthalmia/microphthalmia, and genitourinary anomalies: nosology of Goltz-Gorlin syndrome versus EEC syndrome. AU - Rodini,E S, AU - Nardi,A, AU - Guion-Almeida,M L, AU - Richieri-Costa,A, PY - 1992/2/1/pubmed PY - 1992/2/1/medline PY - 1992/2/1/entrez SP - 276 EP - 80 JF - American journal of medical genetics JO - Am J Med Genet VL - 42 IS - 3 N2 - 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. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/1536161/Ectodermal_dysplasia_ectrodactyly_clefting_anophthalmia/microphthalmia_and_genitourinary_anomalies:_nosology_of_Goltz_Gorlin_syndrome_versus_EEC_syndrome_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1992&volume=42&issue=3&spage=276 DB - PRIME DP - Unbound Medicine ER -