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Osteogenesis Imperfecta

This tag is associated with 3 posts

Solution to Unknown Case #15 – Osteogenesis Imperfecta and the Differential Diagnosis of Gracile Diaphyses

History: 17 year old female. History withheld.  This is a case of osteogenesis imperfecta. Osteogenesis imperfecta is a genetic defect in forming type 1 collagen. There are multiple subtypes of osteogenesis imperfecta, which are divided according to the Silence classificaiton system as follows: Type 1 – Autosomal Dominant, blue sclerae, mildest form (often called osteogenesis … Continue reading

Basilar Invagination

History: 30 year old female with a history of bilateral sensorineural hearing loss.  This is the appearance of basilar invagination, of which the differential includes Paget Disease, Osteomalacia, fibrous dysplasia, achondroplasia, rickets, cleidocranial dysplasia and osteogenesis imperfecta. The diagnosis in this case was osteogenesis imperfecta, which also can cause hearing loss.

Cochlear Otosclerosis

History: 30 year old female with a history of hearing loss. The term for this finding is cochlear otosclerosis. Synonyms include cochlear otospongiosis, retrofenestral otosclerosis, and Beethoven Malady. The diagnosis in this case was osteogenesis imperfecta, however, paget disease, fibrous dysplasia, and otosyphillis can cause these findings.

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