- autosomal recessive
- similar habitus to Marfan’s
- Tall
- Flared distal femur
- Tibial bowing
- Enlarged carpal bones
- osteoporosis
- Scoliosis
- Arachnodactyly
- Lens dislocates down (opposite to Marfan’s)
- Increase in blood methionine
- Cyanide nitroprusside test picks up homocysteinuria
- Thrombosis of veins & arteries
Treatment
- Methionine restriction