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

Osteogenesis Imperfecta, Congenita (OI)

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


Clinical Presentation:
Micromelia and a relatively large head at birth

Etiology/Pathophysiology:
Due to abnormal formation of osteoid, matrix, and collagen associated with osteoblastic dysfunction. Usually lethal and the patients die due to pulmonary insufficiency. Often autosomal recessive, frequently a spontaneous mutation that manifests at birth.

Pathology:
Not applicable

Imaging Findings:
Multiple fractures of various ages.

DDX:

References:
See References Chapter.

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