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Osteopetrosis

Summary of Osteopetrosis
Osteopetrosis, literally "stone bone", also known as marble bone disease, is an extremely rare inherited disorder whereby the bones harden, becoming denser. Despite this excess bone formation, people with osteopetrosis tend to have bones that are more brittle than normal. Osteopetrosis is caused by mutations that interfere with the acidification of the osteoclast resorption pit, leading defective to bone resorption by osteoclasts, as an acidic environment is needed to dissociate calcium hydroxyapatite from the bone matrix. The only durable treatment is bone marrow transplant.

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Pathology

Musculoskeletal system

Pediatric musculoskeletal conditions
Musculoskeletal injuries and trauma
Bone disorders
Joint disorders
Muscular disorders
Neuromuscular junction disorders
Other autoimmune disorders
Musculoskeletal system pathology review

Assessments
Osteopetrosis

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High Yield Notes
16 pages
Flashcards

Osteopetrosis

21 flashcards
Questions

USMLE® Step 1 style questions USMLE

2 questions

USMLE® Step 2 style questions USMLE

2 questions
Preview

A five-month-old male child comes to the office because of failure to thrive. His mother has additionally noticed that he is not startled by loud noises and does not seem to respond when she calls his name. She also reports that the patient has difficulties breathing at night and snores loudly. A complete blood count shows a mild pancytopenia. An X-ray of the skull shows thickening at the base. Which of the following modes of inheritance is associated with the patient's symptoms?