Hereditary arthro-ophthalmopathy (Stickler syndrome)

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 degen...

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Veröffentlicht in:Skeletal radiology 2000-10, Vol.29 (10), p.613-616
Hauptverfasser: SEBES, Jeno I, KASTHURI, Saravanan
Format: Artikel
Sprache:eng
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Zusammenfassung: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.
ISSN:0364-2348
1432-2161
DOI:10.1007/s002560000268