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

Generalized cortical hyperostosis (Van Buchem disease): nosologic considerations.

J R Eastman, D Bixler

    Radiology
    |November 1, 1977
    PubMed
    Summary

    Van Buchem disease, a rare genetic disorder, likely follows a recessive inheritance pattern. Genetic heterogeneity is evident, with a dominant form also identified, suggesting complex origins.

    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

    Multiclonal outbreak of methicillin-resistant Staphylococcus aureus infections on a collegiate football team.

    Epidemiology and infection·2008
    Same author

    Cephalometric analysis of families with dominantly inherited Crouzon syndrome: an aid to diagnosis in family studies.

    American journal of medical genetics·1998
    Same author

    Possible localization of a major gene for cleft lip and palate to 4q.

    Clinical genetics·1994
    Same author

    Cephalometric evidence for a dominantly inherited predisposition to cleft lip-cleft palate in a single large kindred.

    American journal of medical genetics·1994
    Same author

    Quantitation of craniofacial anomalies in utero: fetal alcohol and Crouzon syndromes and thanatophoric dysplasia.

    American journal of medical genetics·1993
    Same author

    Phenotypic definition of cleft lip and its importance to genetic studies of the trait.

    American journal of medical genetics·1991

    Area of Science:

    • Genetics
    • Bone Metabolism
    • Rare Diseases

    Background:

    • Van Buchem disease is a rare sclerosing bone disorder.
    • Previous literature described numerous presumed cases with varying criteria.

    Observation:

    • Six of 41 presumed cases met uniform diagnostic criteria for Van Buchem disease.
    • An additional case was reported by the authors.

    Findings:

    • Segregation analysis of these cases supports a recessive mode of inheritance for Van Buchem disease.
    • Genetic heterogeneity was confirmed by identifying a dominant phenotype resembling Van Buchem disease.
    • The probable etiology involves a defect in endochondral ossification regulation.

    Implications:

    • This study refines diagnostic criteria for Van Buchem disease.
    • Understanding the genetic heterogeneity is crucial for accurate diagnosis and genetic counseling.
    • The findings suggest a specific molecular pathway involved in osteoblast differentiation may be implicated.

    Related Experiment Videos