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Differential diagnosis

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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A patient with Marfan's syndrome may be indistinguishable from a patient with homocystinuria on morphological appearances alone.

In homocystinuria however inheritance is autosomal recessive, the dislocation of the lens is downward, the heart is rarely involved, there may be mental retardation, recurrent thromboses and osteoporosis. There will also be a positive urine cyanide-nitroprusside test.

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