Osteogenesis imperfecta

Synonyms
Ekman-Lobstein syndrome
Glass-bone disease
OI
Vrolik syndrome
OrphaNet reference
Osteogenesis imperfecta 
Subtypes
Osteogenesis imperfecta moderate form
Osteogenesis imperfecta non-deforming form
Osteogenesis imperfecta other types
Osteogenesis imperfecta perinatal lethal form
Osteogenesis imperfecta type 1
Osteogenesis imperfecta type 2
Osteogenesis imperfecta type 3
Osteogenesis imperfecta type 4
Osteogenesis imperfecta with calcification of the interosseous membranes and or hypertrophic callus
May Cause
Abnormal contour of calvarium
Anisospondyly
Anodontia or hypodontia
Aortic insufficiency
Arthropathy
Basilar invagination
Biconcave vertebra
Blue sclerae
Bowed bones
Bowed femur
Bowed tubular bones
Cataract
Clavicular lesion in an infant or child
Clubfoot
Cone-shaped epiphysis
Congenital coxa vara
Congenital generalized osteoporosis
Congenital heart disease
Congenital hydrocephalus
Congenital hypodontia
Congenital macrocephaly
Congenital skull defect
Congenital vertebral abnormality
Congenitally abnormal pelvis
Congenitally limited joint mobility
Coxa vara
Cutis laxa
Cystic medial necrosis
Defective cranial ossification
Degenerative joint changes
Delayed closure of fontanelles
Delayed tooth eruption
Dense or thick skull
Disrupted epiphyseal-metaphyseal junction
Dissecting aneurysm of the ascending aorta or arch
Excess callus formation
External ear malformation
Fetal cranial deformity
Forearm deformity
Generalized osteopenia or osteolysis of the jaws
Generalized skull thinning
Genu varum
Hooked clavicle
Hydrocephalus
Hyperparathyroidism
Incomplete ossification of cranial sutures
Increased risk of neoplasm
Inner ear anomaly
Joint laxity
Large aortic arch
Large ascending aorta
Large fontanelle
Limb asymmetry
Limited joint mobility
Lytic skeletal lesion
Macrocephaly
Metatarsus adductus
Middle ear anomaly
Mitral insufficiency
Multiple abnormal epiphyses
Multiple collapsed vertebrae
Multiple expanding rib lesions
Multiple fractures
Multiple sclerotic foci in an infant or child
Notching of the superior rib margins
Osteosarcoma
Otosclerosis
Pathologic fracture
Pectus carinatum
Pectus excavatum
Periosteal new bone formation in a child
Platyspondyly
Polyostotic bone lesions in an infant or young child
Protrusio acetabuli
Pseudoarthrosis
Pseudofracture
Retinal detachment
Retinopathy
Ring epiphyses
Ring-shaped epiphysis
Scoliosis
Short narrow thoracic cage
Spinal osteopenia
Tam-o-shanter skull
Temporal bone osteolysis
Thick periosteal reaction along bone shaft
Thick skull
Twisted bones
Wide intervertebral disk space
Wide metaphysis
Wide sutures
Widespread cortical bone thinning
Widespread demineralization with coarse trabeculation
Wormian bones
May Be Caused by
Cole-Carpenter syndrome
Osteogenesis imperfecta - retinopathy - seizures - intellectual deficit

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