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Osteogenesis Imperfecta Disease database
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Location: http://www.diseasesdatabase.com/ddb9342.htm
Description: Osteogenesis Imperfecta:
"Autosomal dominant COLLAGEN DISEASES resulting from defective biosynthesis of COLLAGEN TYPE I and characterized by brittle, osteoporotic, and easily fractured bones. It may also present with blue sclerae, loose joints, and imperfect dentin formation. There are four major types, I-IV."
Source: Medical Subject Headings, 2007_2006_08_08
"autosomal dominant collagen disease resulting from defective biosynthesis of collagen type I and characterized by brittle, osteoporotic, and easily fractured bones; may also present with blue sclerae, loose joints, and imperfect dentin formation."
Source: CRISP Thesaurus, 2006
Osteogenesis imperfecta
aka/or
Brittle bone disease
may cause or feature
Miscellaneous syndromes
Pathological fracture
Symptoms and Signs
Blue sclerae
Conductive hearing loss
Disproportionate short stature
Facies abnormality
Genu varum
Hypotonia (skeletal muscle)
Joint hypermobility
Kyphosis
Scoliosis
Short stature
Tooth abnormalities
Congenital conditions
Collagen disorder, hereditary
Cardiac and vascular conditions
Mitral valve incompetence
Type: Reference Material
Author/Contact: Not available
Institution: Disease Database
Primary Subject/Category:
Language: English
Submitted by: admin
Hits: 966
Added: Sun Dec 10 2006