A presumptive new variant of Norrie's disease.

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Abstract
A Brazilian Negro sibship with 6 males affected by a presumptive new variant of Norrie''s disease, an X-linked congenital oculo-acoustical-cerebral degeneration syndrome, is described. In addition to the typical stigmata of the disease, all the patients were microcephalic and 2 had cryptorchidism. Possible non-genetic etiology was investigated with negative results. Xg blood group studies were informative and the lod scores are given, together with those for 2 previously reported families with Norrie''s disease.