Short Stature & Fractures in an Adult

An 84-cm tall 40-year-old man undergoes a DXA scan, revealing scoliosis and a radial orthopedic rod. What is the underlying genetic disorder?

Osteogenesis imperfecta


This 84-cm tall 40-year-old man underwent whole-body dual-energy x-ray absorptiometry. What is the diagnosis?

What is the most likely diagnosis?

Pseudohypoparathyroidism
X-linked hypophosphatemia
Osteogenesis imperfecta
Achondroplasia
Ehlers Danlos syndrome

Collagen Disorder, DXA Scan, Osteogenesis imperfecta, Pathological Fractures, Scoliosis

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