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

Neonatal death dwarfism. (A further report).

K Kozlowski, J Masel, L Morris

    Rofo : Fortschritte Auf Dem Gebiete Der Rontgenstrahlen Und Der Nuklearmedizin
    |November 1, 1978
    PubMed
    Summary

    Neonatal death dwarfism cases were diagnosed radiographically, not clinically. Skeletal surveys are crucial for accurate diagnosis in these rare neonatal skeletal dysplasias.

    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

    Predicting patterns of long-term adaptation and extinction with population genetics.

    Evolution; international journal of organic evolution·2016
    Same author

    Evidence-Based Medicine as a Tool for Undergraduate Probability and Statistics Education.

    CBE life sciences education·2015
    Same author

    Constraints on the evolution of phenotypic plasticity: limits and costs of phenotype and plasticity.

    Heredity·2015
    Same author

    [Evidence-based therapy guideline of the German Working Group on Obesity in Childhood and Adolescence].

    Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz·2011
    Same author

    [Treatment of extremely obese adolescents and young adults at the Insula Obesity Center in Bischofswiesen].

    Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz·2011
    Same author

    [Multifunctional carbon nano-tubes for biomedical applications (CARBIO). A project of the European Marie Curie Network].

    Der Urologe. Ausg. A·2007

    Area of Science:

    • Pediatric Radiology
    • Skeletal Dysplasias
    • Neonatal Pathology

    Background:

    • Neonatal death dwarfism encompasses a group of rare, lethal skeletal dysplasias.
    • Accurate diagnosis is essential for genetic counseling and understanding prognosis.

    Purpose of the Study:

    • To report on seven cases of neonatal death dwarfism observed in Australian children's hospitals.
    • To evaluate the diagnostic accuracy of clinical versus radiographic assessment.

    Main Methods:

    • Retrospective review of seven cases with neonatal death dwarfism.
    • Analysis of clinical diagnoses and radiographic findings from skeletal surveys.
    • Comparison of diagnostic concordance between clinical and radiological assessments.

    Main Results:

    • Clinical diagnoses were uncertain or incorrect in all seven cases.
    • Radiographic examination via skeletal survey provided a conclusive diagnosis in six out of seven cases.
    • Specific diagnoses included Diastrophic Dwarfism, Achondrogenesis II, Hypophosphatasia, and Achondroplasia.

    Conclusions:

    • Radiographic skeletal surveys are vital for accurate diagnosis of neonatal death dwarfism.
    • Clinical assessment alone is often insufficient for definitive diagnosis in these conditions.
    • Early and accurate diagnosis through skeletal surveys aids in patient management and family counseling.

    Related Experiment Videos