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- W2019917328 abstract "Sponastrime dysplasia is a rare skeletal dysplasia characterized by severe short stature, scoliosis, a saddle nose, frontal bossing, and increased upper/lower segment ratio. Etiology of this condition is unknown. Radiological findings include a concavity in the posterior two thirds of lumbar vertebral bodies, platyspondyly, thoracolumbar scoliosis, marginal irregularity and striations of metaphyses, and delayed bone age. We report a patient with findings of sponastrime dysplasia and evaluation of urinary glycosaminoglycans with the presence of dermatan sulfate, heparan sulfate, chondroitin 4 sulfate, and chondroitin 6 sulfate. This suggests the etiology of this disorder may be abnormal cartilage metabolism." @default.
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- W2019917328 date "2002-01-01" @default.
- W2019917328 modified "2023-10-09" @default.
- W2019917328 title "Sponastrime dysplasia with abnormal urinary glycosaminoglycans and growth hormone unresponsiveness" @default.
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- W2019917328 doi "https://doi.org/10.1097/00019605-200201000-00011" @default.
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