Nephropathic cystinosis is an autosomal recessive lysosomal storage disorder in 
which intracellular cystine accumulates. It is caused by mutations in the CTNS 
gene. Clinical manifestations include renal tubular Fanconi syndrome in the 
first year of life, rickets, hypokalaemia, polyuria, dehydration and acidosis, 
growth retardation, hypothyroidism, photophobia and renal glomerular 
deterioration. Late complications include myopathy, pancreatic insufficiency and 
retinal blindness. Skeletal manifestations described in these patients include 
failure to thrive, osteomalacia, rickets and short stature. This paper describes 
progressive bony abnormalities in three unrelated patients with nephropathic 
cystinosis that have not been reported previously.