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Virtual Pediatric Hospital: Paediapaedia: Osteogenesis Imperfecta, Tarda (OI) Paediapaedia: Musculoskeletal Diseases

Osteogenesis Imperfecta, Tarda (OI)

Michael P. D'Alessandro, M.D.
Peer Review Status: Internally Peer Reviewed


Clinical Presentation:
The skin is thin and translucent. Twenty to 30% have dentin dysplasia and abnormal teeth. Blue sclera are present due to the vascular bed showing through the thin sclera. Twenty percent have deafness due to otosclerosis. Also have joint laxity and hypermobility, short stature and congenital hernias. Usually presents in infancy or childhood. Twenty percent have fractures at or near birth.

Etiology/Pathophysiology:
Due to abnormal formation of osteoid, matrix, and collagen and associated with osteoblastic dysfunction. Usually autosomal dominant but often due to spontaneous mutations. Accounts for 90% of OI disease.

Pathology:
Not applicable

Imaging Findings:
See fractures of lower extremities with bowing of long bones. Fractures have exuberant callus formation when healing. Bones have thin cortices and the bone is osteopenic with a decreased trabecular pattern. Genu valgum (knock knees) and coxa vara due to femoral neck fractures are seen. Vertebral body osteopenia leads to biconcave compression deformities. Wormian bones are present. Basilar impression and overhanging occiput (platybasia) can develop.

DDX:
Wormian Bones

References:
See References Chapter.

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