Ectodermal dysplasia, ectrodactyly, clefting, anophthalmia microphthalmia, and genitourinary anomalies: nosology of goltz-gorlin syndrome versus eec syndrome


Autoria(s): Rodini, ESO; Nardi, A.; Guionalmeida, M. L.; Richiericosta, A.
Contribuinte(s)

Universidade Estadual Paulista (UNESP)

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