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  • Title: Sponastrime dysplasia with abnormal urinary glycosaminoglycans and growth hormone unresponsiveness.
    Author: Umpaichitra V, Wallerstein R, Castells S.
    Journal: Clin Dysmorphol; 2002 Jan; 11(1):53-6. PubMed ID: 11822706.
    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.
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