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

[The cerebro-oculo-facio-skeletal syndrome].

C Piussan, B Cuvelier, C Lenaerts

    Archives Francaises De Pediatrie
    |April 1, 1979
    PubMed
    Summary

    A rare cerebro-oculo-facio skeletal syndrome case highlights severe congenital anomalies. This autosomal recessive condition involves distinctive facial and skeletal features, renal agenesis, and ocular abnormalities, leading to early mortality.

    Related Experiment Videos

    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

    Prevalence of sarcopenia in a population of nursing home residents according to their frailty status: results of the SENIOR cohort.

    Journal of musculoskeletal & neuronal interactions·2017
    Same author

    Dramatic Increase in Incidence of Ulcerative Colitis and Crohn's Disease (1988-2011): A Population-Based Study of French Adolescents.

    The American journal of gastroenterology·2017
    Same author

    Signalling properties and pharmacology of a 5-HT7 -type serotonin receptor from Tribolium castaneum.

    Insect molecular biology·2013
    Same author

    Analytical aspects of marinobufagenin.

    Clinica chimica acta; international journal of clinical chemistry·2013
    Same author

    Subset characterization of myeloid-derived suppressor cells arising during induction of BM chimerism in mice.

    Bone marrow transplantation·2011
    Same author

    Subclinical GvHD in non-irradiated F1 hybrids: severe lymphoid-tissue GvHD causing prolonged immune dysfunction.

    Bone marrow transplantation·2010

    Area of Science:

    • Medical Genetics
    • Clinical Dysmorphology
    • Pediatric Pathology

    Background:

    • Cerebro-oculo-facio skeletal syndrome is a rare genetic disorder.
    • It presents with a constellation of severe congenital anomalies affecting multiple organ systems.
    • Understanding its inheritance pattern is crucial for genetic counseling.