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

Thanatophoric dysplasia.

T Tanaka, A Nishikawa, S Yamaguchi

    Acta Pathologica Japonica
    |March 1, 1984
    PubMed
    Summary
    This summary is machine-generated.

    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

    Novel method of rugby headgear for managing postoperative cerebrospinal fluid leakage following craniotomy.

    Neuro-Chirurgie·2022
    Same author

    Retrospective analysis of the survival benefit of chemotherapy for recurrent or advanced epithelial ovarian carcinoma in patients previously treated with paclitaxel plus platinum-based chemotherapy.

    European journal of gynaecological oncology·2018
    Same author

    Enhanced wound healing by topical application of ointment containing a low concentration of povidone-iodine.

    Journal of wound care·2016
    Same author

    Short interpregnancy interval after B-Lynch uterine compression suture: a case report.

    Clinical and experimental obstetrics & gynecology·2016
    Same author

    The effects of long-term exposure to ozokerite mainly consisting of an aliphatic series of hydrocarbons using F344 rats.

    Food and chemical toxicology : an international journal published for the British Industrial Biological Research Association·2013
    Same author

    Liver hypertrophy: a review of adaptive (adverse and non-adverse) changes--conclusions from the 3rd International ESTP Expert Workshop.

    Toxicologic pathology·2012

    Thanatophoric dysplasia, a lethal skeletal disorder, causes severe limb shortening and narrow chests in newborns. Autopsy revealed disrupted bone formation in the femur, distinguishing it from other lethal chondrodysplasias.

    Area of Science:

    • Medical Genetics
    • Skeletal Dysplasias
    • Developmental Biology

    Background:

    • Thanatophoric dysplasia is a severe, lethal skeletal disorder characterized by extreme micromelia and a narrow thorax.
    • It represents a significant challenge in prenatal diagnosis and understanding of skeletal development.

    Observation:

    • Autopsy of two male neonates with thanatophoric dysplasia revealed characteristic features of markedly short limbs and narrow thoraxes.
    • Histological examination of the femur showed generalized disruption of endochondral ossification, with normal resting cartilage at the epiphyseal region.

    Findings:

    • The study details the pathological findings in two cases of thanatophoric dysplasia.
    • Key histological findings include abnormal endochondral ossification, crucial for long bone growth.

    Related Experiment Videos

    Implications:

    • Understanding the histogenesis of thanatophoric dysplasia aids in differentiating it from other lethal chondrodysplasias.
    • This research contributes to the literature on skeletal dysplasias and their developmental origins.