Sponastrime dysplasia with abnormal urinary glycosaminoglycans and growth hormone unresponsiveness.
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.
Umpaichitra
Vatcharapan
V
Pediatric Endocrinology, Department of Pediatrics, State University of New York (SUNY) Health Science Center at Brooklyn (HSCB), 11203, USA. umpaiv07@hscbklyn.edu
Wallerstein
Robert
R
Castells
Salvador
S
D001827:Body Height; D002648:Child; D004392:Dwarfism / Q000000981:diagnostic imaging* / Q000188:drug therapy* / Q000652:urine; D005260:Female; D006025:Glycosaminoglycans / Q000652:urine*; D019382:Human Growth Hormone / Q000008:administration & dosage*; D006801:Humans; D009666:Nose / Q000002:abnormalities; D011859:Radiography; D012600:Scoliosis / Q000000981:diagnostic imaging / Q000652:urine; D017211:Treatment Failure
D006025:Glycosaminoglycans; D019382:Human Growth Hormone