Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia

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Retrieved

2019-09-22

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OMIM

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Roy et al. (1968) described a 14-year-old girl with defective metaphyseal modeling as in Pyle disease, increased bone density, plaque-like skin lesions, and signs of spastic paraplegia. The parents were not related.