The Paradox of Brittle, Dense Bones

A 6-year-old girl presents with short stature, vision/Hearing Loss, and unique radiograph findings. Explore a rare genetic disorder of increased bone density.

Osteopetrosis


A 6-year-old girl presented with short stature, impaired hearing, and vision loss at 2 years of age. A radiograph of her wrists show the following features. What is the diagnosis?

What is the most likely diagnosis?

Lead poisoning
Osteopetrosis
Fibrous dysplasia
Hypoparathyroidism
Hypervitaminosis D

Genetics, Orthopedics, Osteopetrosis, Pediatrics, Radiology

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