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 degenerative arthritis and osteopenia with increased incidence of fractures. The differential diagnosis and treatment for bone loss are discussed.
Sebes
J I
JI
Department of Radiology, University of Tennessee Medical Center, Memphis 38163, USA.
Kasthuri
S
S
D000328:Adult; D003094:Collagen / Q000235:genetics; D003240:Connective Tissue Diseases / Q000235:genetics*; D003937:Diagnosis, Differential; D005128:Eye Diseases / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D013577:Syndrome
D003094:Collagen