Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Osteopetrosis.

Dennis J Stoker1

  • 1Department of Radiology, The Royal National Orthopaedic Hospital, London and Stanmore, England, United Kingdom. stoker@dj3.demon.co.uk

Seminars in Musculoskeletal Radiology
|January 24, 2003
PubMed
Summary
This summary is machine-generated.

Osteopetrosis, a rare inherited bone disease, is caused by poor osteoclast function. Advances now distinguish two autosomal dominant types, clarifying classifications beyond the older Albers-Schönberg disease eponym.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same journal

History of MSK Section of the Italian Society of Radiology.

Seminars in musculoskeletal radiology·2026
Same journal

Principles of Anatomy and Function in Wrist Imaging.

Seminars in musculoskeletal radiology·2026
Same journal

Opportunistic Screening Based on Computed Tomography in Musculoskeletal Radiology: How and Why.

Seminars in musculoskeletal radiology·2026
Same journal

Musculoskeletal Computed Tomography Imaging: A 30-Year Perspective.

Seminars in musculoskeletal radiology·2026
Same journal

Current Advances and Controversies in Spine Imaging.

Seminars in musculoskeletal radiology·2026
Same journal

New Techniques in Musculoskeletal MRI: State of the Art.

Seminars in musculoskeletal radiology·2026
See all related articles

Area of Science:

  • Bone biology
  • Genetics
  • Rare diseases

Background:

  • Osteopetrosis is a rare inherited bone dysplasia characterized by deficient osteoclast function.
  • Historically classified into severe infantile recessive and benign autosomal dominant types.
  • Recent genetic advancements allow for the identification of two distinct autosomal dominant forms.

Purpose of the Study:

  • To clarify the classification of osteopetrosis based on clinical and genetic understanding.
  • To differentiate between various forms of osteopetrosis, including autosomal dominant types.
  • To address the historical use of the Albers-Schönberg disease eponym.

Main Methods:

  • Radiographic diagnosis of osteopetrosis.
  • Computed tomography (CT) for enhanced diagnostic imaging.

Related Experiment Videos

  • Magnetic resonance imaging (MRI) for evaluating marrow in severe recessive cases.

    • Main Results:

    • Identification of two distinct autosomal dominant types of osteopetrosis.
    • Distinction from the historical Albers-Schönberg disease, which likely represented an autosomal dominant form.
    • Radiography and CT remain primary diagnostic tools.

    Conclusions:

    • Osteopetrosis classification has evolved beyond simple recessive and dominant types.
    • Accurate genetic and clinical classification is crucial for understanding disease prognosis.
    • Diagnostic imaging techniques like radiography and CT are essential for osteopetrosis diagnosis.