Umpaichitra Vatcharapan, Wallerstein Robert, Castells Salvador
Pediatric Endocrinology, Department of Pediatrics, State University of New York (SUNY) Health Science Center at Brooklyn (HSCB), 11203, USA.
Clin Dysmorphol. 2002 Jan;11(1):53-6. doi: 10.1097/00019605-200201000-00011.
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.
