Hereditary arthro-ophthalmopathy (Stickler syndrome)

Skeletal Radiology

Volumn 29, Issue 10, 2000, Pages 613-616

  Sebes, J I ^a   Kasthuri, S ^a  

^a UNIVERSITY OF TENNESSEE MEDICAL CENTER   (United States)

Author keywords

Arthritis and defective bone formation; Hereditary arthro ophthalmopathy; Ocular abnormalities; Radiographs; Stickler syndrome

Indexed keywords

ALENDRONIC ACID; CALCIFEDIOL; COLLAGEN TYPE 2; OSTEOCALCIN;

ADULT; ARTICLE; BONE RADIOGRAPHY; CASE REPORT; CATARACT; CLINICAL FEATURE; COLLAGEN DISEASE; DIFFERENTIAL DIAGNOSIS; DUAL ENERGY X RAY ABSORPTIOMETRY; EYE SURGERY; FEMALE; HEREDITARY CONNECTIVE TISSUE DISEASE; HUMAN; OSTEOARTHRITIS; OSTEOCHONDROSIS; OSTEOPENIA; PATHOLOGIC FRACTURE; PRIORITY JOURNAL; RETINA DETACHMENT; STICKLER SYNDROME; TOTAL HIP PROSTHESIS; TREATMENT PLANNING;

ADULT; COLLAGEN; CONNECTIVE TISSUE DISEASES; DIAGNOSIS, DIFFERENTIAL; EYE DISEASES; FEMALE; GENES, DOMINANT; HUMANS; SYNDROME;

EID: 0033746651     PISSN: 03642348     EISSN: None     Source Type: Journal    
DOI: 10.1007/s002560000268     Document Type: Article

References (8)

1. Atlas of skeletal dysplasia
2. The Stickler syndrome presenting as an abnormally inherited cleft palate and blindness
3. A second mutation in the type II procollagen gene (COL2A1) causing Stickler's syndrome (arthro-ophthalmopathy) is also a premature termination codon
4. The Stickler syndrome (hereditary arthro-ophthalmopathy)
5. The Wagner-Stickler syndrome; a study of 22 families
6. Clefting syndromes associated with retinal detachment
7. Prevalence of mitral valve prolapse in the Stickler's syndrome
8. Stickler's syndrome