Sponastrime dysplasia with abnormal urinary glycosaminoglycans and growth hormone unresponsiveness.

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.

• Authors: Vatcharapan Umpaichitra, Robert Wallerstein, Salvador Castells
• Journal: Clinical dysmorphology (Clin Dysmorphol) Vol. 11 Issue 1 Pg. 53-6 (Jan 2002) ISSN: 0962-8827 [Print] England
• PMID: 11822706 (Publication Type: Case Reports, Journal Article)

Chemical References

• Glycosaminoglycans
• Human Growth Hormone

Topics

• Body Height
• Child
• Dwarfism (diagnostic imaging, drug therapy, urine)
• Female
• Glycosaminoglycans (urine)
• Human Growth Hormone (administration & dosage)
• Humans
• Nose (abnormalities)
• Radiography
• Scoliosis (diagnostic imaging, urine)
• Treatment Failure