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Ectodermal dysplasia with blindness in sibs on the island of Rodrigues
1Department of Human Genetics, University of Cape Town, South Africa.
Journal of Medical Genetics
|May 1, 1992
Abstract:
A brother and sister from the island of Rodrigues had mental retardation, blindness owing to severe ocular malformations, short stature, dysmorphic facial features, hypotrichosis, and dental abnormalities. It is likely that they have a hitherto unrecognised autosomal recessive ectodermal dysplasia syndrome.