Ectodermal dysplasia, ectrodactyly, clefting, anophthalmia microphthalmia, and genitourinary anomalies: nosology of goltz-gorlin syndrome versus eec syndrome
Contribuinte(s) |
Universidade Estadual Paulista (UNESP) |
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Data(s) |
20/05/2014
20/05/2014
01/02/1992
|
Resumo |
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. |
Formato |
276-280 |
Identificador |
http://dx.doi.org/10.1002/ajmg.1320420303 American Journal of Medical Genetics. New York: Wiley-liss, v. 42, n. 3, p. 276-280, 1992. 0148-7299 http://hdl.handle.net/11449/34404 10.1002/ajmg.1320420303 WOS:A1992HA73700002 |
Idioma(s) |
eng |
Publicador |
Wiley-Blackwell |
Relação |
American Journal of Medical Genetics |
Direitos |
closedAccess |
Palavras-Chave | #MCA MALFORMATION SYNDROMES #X-LINKED INHERITANCE #GOLTZ-GORLIN SYNDROME |
Tipo |
info:eu-repo/semantics/article |