Clinically, another disease, inherited, has almost similar features of Marfan's syndrome . It is known as homocystinuria . But there are dissimilarities too.
inheritance:
Marfan's - autosomal dominant
homocystinuria - autosomal recessive
lens dislocation:
Marfan's - upward lens dislocation
homocystinuria - downward lens dislocation
aortic incompetence:
Marfan's - aortic incompetence may occur
homocystinuria - heart rarely affected
intellectual development:
Marfan's - normal
homocystinuria - mental retardation
other principle features:
Marfan's - flat feet, herniae, scoliosis; there is a 50% reduction in life expectancy
homocystinuria - osteoporosis, recurrent thromboembolism; characteristic laboratory features - plasma methionine and homocystine levels are elevated, homocystine is excreted in the urine, plasma cystine levels are reduced, positive urine cyanide-nitroprusside test; response to treatment with pyridoxine
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