Hereditary arthro-ophthalmopathy (Stickler syndrome)
| Autor: | Saravanan Kasthuri, Jeno I. Sebes |
|---|---|
| Rok vydání: | 2000 |
| Předmět: |
Adult
Connective Tissue Disorder Pathology medicine.medical_specialty Eye Diseases Bone disease business.industry Syndrome Osteoarthritis medicine.disease Osteochondrodysplasia Diagnosis Differential Osteopenia Degenerative disease medicine Humans Female Radiology Nuclear Medicine and imaging Stickler syndrome Collagen Differential diagnosis Connective Tissue Diseases business Genes Dominant |
| Zdroj: | Skeletal Radiology. 29:613-616 |
| ISSN: | 1432-2161 0364-2348 |
| DOI: | 10.1007/s002560000268 |
| Popis: | We report a 34-year-old woman with hereditary arthro-ophthalmopathy (HAO; Stickler syndrome). This disorder is a rare inherited generalized connective tissue disorder involving the eyes, facial structures and the skeleton, resulting from defective type II collagen formation. There is premature degenerative arthritis and osteopenia with increased incidence of fractures. The differential diagnosis and treatment for bone loss are discussed. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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