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Oculotrichodysplasia (OTD): a new probably autosomal recessive condition
L Cecatto-De-Lima1, M Pinheiro, N Freire-Maia
1Departmento de Genética, Universidade Federal do Paraná, Curitiba, Brazil.
Journal of Medical Genetics
|June 1, 1988
Abstract:
A brother and sister, the offspring of first cousins, are described with retinitis pigmentosa, trichodysplasia (hypotrichosis and structural changes), dental anomalies, and onychodysplasia. This is a pure ectodermal dysplasia of the tricho-odonto-onychial subgroup, probably due to an autosomal recessive gene.