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

Cleidocranial dysplasia.

H D Kerr1

  • 1Department of Medicine, Medical College of Wisconsin, Milwaukee.

The Journal of Rheumatology
|February 1, 1988
PubMed
Summary
This summary is machine-generated.

This case study describes an elderly man with severe kyphoscoliosis and congestive heart failure, who was diagnosed with cleidocranial dysplasia. The study discusses the characteristics and diagnosis of this rare genetic disorder.

Related Concept Videos

You might also read

Related Articles

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

Sort by
Same author

Fractures of the femoral neck following pelvic irradiation.

The American journal of roentgenology and radium therapy·2010
Same author

Diagnosis and treatment of cancer of the uterus.

American practitioner and digest of treatment·2010
Same author

A quadriplegic man with hypothermia and thrombocytopenia.

WMJ : official publication of the State Medical Society of Wisconsin·1999
Same author

Ureteral stent displacement associated with deep massage.

WMJ : official publication of the State Medical Society of Wisconsin·1998
Same author

Status epilepticus after cranial CT with contrast media.

WMJ : official publication of the State Medical Society of Wisconsin·1997
Same author

Doxapram in hypercapnic chronic obstructive pulmonary disease with respiratory failure.

The Journal of emergency medicine·1997
Same journal

Clinical Features and Outcome Measures Across Still Disease (Systemic Juvenile Idiopathic Arthritis and Adult-Onset Still Disease) Cohorts Worldwide: A Systematic Literature Review.

The Journal of rheumatology·2026
Same journal

Concurrent Calcium Pyrophosphate Deposition Disease and Gout of the Cervical Spine Presenting With Subacute Neck Pain and Radiculopathy.

The Journal of rheumatology·2026
Same journal

The Need for Weight Communication Guidelines in Pediatric Rheumatology.

The Journal of rheumatology·2026
Same journal

Bimekizumab Improves Health Status and Work Productivity, With Reduced Productivity Costs, to 3 Years in Axial Spondyloarthritis and Psoriatic Arthritis.

The Journal of rheumatology·2026
Same journal

Qualitative Analysis of Physical Activity Engagement in Women with Self-Reported SLE: The Role of Symptoms, Healthcare Providers, and the Environment.

The Journal of rheumatology·2026
Same journal

Tumoral Calcinosis-like Calcification of the Proximal Interphalangeal Joint Mimicking Rheumatoid Arthritis Flare.

The Journal of rheumatology·2026
See all related articles

Area of Science:

  • Medical Genetics
  • Skeletal Dysplasias
  • Cardiology

Background:

  • Congestive heart failure (CHF) can present with complex comorbidities.
  • Severe spinal deformities like kyphoscoliosis can impact cardiac function.
  • Rare genetic disorders may manifest with multisystemic abnormalities.

Observation:

  • An elderly male patient presented with severe kyphoscoliosis and congestive heart failure.
  • Standard treatment for CHF led to patient improvement.
  • Radiological imaging identified significant cranial and skeletal abnormalities.

Findings:

  • The patient's skeletal abnormalities were diagnosed as cleidocranial dysplasia.
  • Cleidocranial dysplasia is a rare autosomal dominant disorder.

Related Experiment Videos

  • The case highlights the association between kyphoscoliosis, CHF, and cleidocranial dysplasia.

    • Implications:

    • This case underscores the importance of comprehensive evaluation in patients with complex presentations.
    • Recognizing cleidocranial dysplasia is crucial for managing associated skeletal and potential systemic issues.
    • Further research into the cardiovascular manifestations of cleidocranial dysplasia may be warranted.