“ Autosomal recessive inherited defect in methionine metabolism leading to a build-up of homocysteine in the blood and urine. There is a de...
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Autosomal recessive inherited defect in methionine metabolism leading to a build-up of homocysteine in the blood and urine. There is a defect in collagen and elastin structure, which causes Marfanoid features and lax ligaments. There is an increased risk of stroke.
PLAIN FILM
• Generalised osteoporosis (75%)
• Carpal bone abnormalities: enlarged epiphyses, epiphyseal calcification, metaphyseal cupping and delayed ossification,Arachnodactyly
• Scoliosis
• Biconcave vertebrae
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