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.
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Authors | E S Rodini, A Nardi, M L Guion-Almeida, A Richieri-Costa |
Journal | American journal of medical genetics
(Am J Med Genet)
Vol. 42
Issue 3
Pg. 276-80
(Feb 01 1992)
ISSN: 0148-7299 [Print] United States |
PMID | 1536161
(Publication Type: Case Reports, Journal Article)
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Topics |
- Abnormalities, Multiple
- Child
- Ectodermal Dysplasia
(complications)
- Eye Abnormalities
(complications)
- Female
- Focal Dermal Hypoplasia
(classification)
- Humans
- Infant
- Limb Deformities, Congenital
- Mouth Abnormalities
(complications)
- Syndrome
- Urogenital Abnormalities
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