Abstract
A syndrome of congenital ichthyosis with atrophy, mental retardation, dwarfism, and generalized aminoaciduria is described in three siblings in a family of a consanguineous marriage. Renal glycosuria and uricosuria were noted in some affected and unaffected members. It is postulated that these two renal tubular reabsorption defects are independent of the ichthyosis syndrome and are transmitted as a dominant defect, whereas the syndrome is inherited as an autosomal recessive disorder.
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