Skeletal Dysplasias
A 4-year-old boy is referred to the orthopaedic clinic after sustaining his 6th long bone fracture following minimal trauma. His parents report he has blue-gray sclerae and poor dentition. His hearing is normal. He has a family history of multiple fractures in his father who also has blue sclerae. Examination reveals mild limb bowing but he is ambulatory with a normal stature for his age. Radiographs show osteopenia with thin cortices and evidence of previous healed fractures with mild deformity. Regarding osteogenesis imperfecta (OI):
Mark each as TRUE or FALSE
Osteogenesis imperfecta is a heterogeneous group of inherited disorders of connective tissue charact...
The Sillence classification divides OI into types: Type I is mild autosomal dominant with blue scler...
Osteogenesis imperfecta is caused by type II collagen defects; all types are autosomal recessive; Ty...
Associated features include blue sclerae (thin sclerae showing underlying choroidal vessels), dentin...
Treatment is multidisciplinary including bisphosphonates (pamidronate, zoledronic acid) which reduce...
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Click T (True) or F (False) for each option