Oculotrichodysplasia (OTD): a new probably autosomal recessive condition.
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.
Cecatto-De-Lima
L
L
Departmento de Genética, Universidade Federal do Paraná, Curitiba, Brazil.
Pinheiro
M
M
Freire-Maia
N
N
D000293:Adolescent; D000328:Adult; D000505:Alopecia / Q000235:genetics*; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007039:Hypotrichosis / Q000235:genetics*; D008297:Male; D012174:Retinitis Pigmentosa / Q000235:genetics*