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

Jansen's metaphyseal dysostosis

S L Gordon, L A Varano, A Alandete

    Pediatrics
    |October 1, 1976
    PubMed
    Summary
    This summary is machine-generated.

    Jansen's metaphyseal dysostosis, a rare disorder affecting bone growth, was identified at birth with severe radiographic signs. Early management during childhood growth is crucial for minimizing deformities in this rare skeletal dysplasia.

    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

    Neurodevelopmental synaptopathies: Insights from behaviour in rodent models of synapse gene mutations.

    Progress in neuro-psychopharmacology & biological psychiatry·2017
    Same author

    Clinical trial of tin mesoporphyrin to prevent neonatal hyperbilirubinemia.

    Journal of perinatology : official journal of the California Perinatal Association·2016
    Same author

    Transcutaneous bilirubin levels in newborns <35 weeks' gestation.

    Journal of perinatology : official journal of the California Perinatal Association·2015
    Same author

    Transcutaneous bilirubin levels in newborns <35 weeks' gestation.

    Journal of perinatology : official journal of the California Perinatal Association·2015
    Same author

    Sister Jean Ward, phototherapy, and jaundice: a unique human and photochemical interaction.

    Journal of perinatology : official journal of the California Perinatal Association·2015
    Same author

    Routine blood typing and DAT in infants of group O mothers.

    Journal of perinatology : official journal of the California Perinatal Association·2013

    Area of Science:

    • Medical Genetics
    • Skeletal Dysplasias
    • Endochondral Ossification

    Background:

    • Jansen's metaphyseal dysostosis is a rare genetic disorder impacting bone development.
    • It is characterized by abnormal endochondral ossification, leading to skeletal abnormalities.
    • This condition often presents with significant growth retardation and skeletal deformities.

    Observation:

    • A unique case of Jansen's metaphyseal dysostosis is presented.
    • Severe radiographic manifestations were detected at birth, representing the earliest presentation reported.
    • Linear growth was significantly retarded by the age of two years.

    Findings:

    • The case highlights the severe radiographic features of Jansen's metaphyseal dysostosis detectable from birth.

    Related Experiment Videos

  • Significant growth retardation is a key clinical observation in affected individuals by early childhood.
  • Anticipation of full ossification with trabeculae formation is a key radiographic finding.

    • Implications:

    • Early recognition of Jansen's metaphyseal dysostosis is critical for timely intervention.
    • Appropriate management during the active growth phase is essential to mitigate deformities.
    • This case underscores the importance of early diagnosis in managing rare skeletal dysplasias to improve patient outcomes.