After finishing medical school, you decide to squander your education and abandon your kind-hearted nature to pursue law school. As the district attorney, you get called to evaluate this case of potential child abuse. This child presented with multiple fractures. You take one look at his eyes and remember fondly back to your medical school days and realize that this disease is...Challenge: What?
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Osteogenesis imperfecta
This Was Not Photoshopped
This is osteogenesis imperfecta or “brittle bone disease,” an autosomal dominant inherited connective tissue disorder due to mutation in type I collagen (COL1A1, COL1A2). Type I collagen is found in bone, tendon, ligament, skin, and sclera. Bone histology shows more disorganized woven bone. Clinical manifestations include excess or atypical fractures, short stature, scoliosis, basilar skull deformities, blue sclera (seen here), hearing loss, opalescent teeth that wear quickly (dentinogenesis imperfecta), increased laxity of ligaments and skin, small irregular bones along cranial structures, and increased bruising.
Sources: UpToDate; Wilcox and McDonald, “Gray-Blue Sclerae and Osteopenia Secondary to Osteogenesis Imperfecta.” Mayo Clinic Proceedings.
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