A new variant of Lowe oculocerebrorenal syndrome.
A case is reported of a 5-year-old boy with Lowe syndrome. The patient was unusual in that he had only mild and transient acidosis with no rickets. The corneal opacities in the parents suggest that this disease might be autosomal recessive.
D001639:Bicarbonates / Q000097:blood; D002675:Child, Preschool; D006801:Humans; D006863:Hydrogen-Ion Concentration; D008297:Male; D009800:Oculocerebrorenal Syndrome / Q000097:blood*; D010758:Phosphorus / Q000097:blood; D015499:Renal Tubular Transport, Inborn Errors / Q000097:blood*
D001639:Bicarbonates; D010758:Phosphorus