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

[Cohen's syndrome in 2 sisters].

P Doyard, J F Mattei

    La Semaine Des Hopitaux : Organe Fonde Par L'Association D'Enseignement Medical Des Hopitaux De Paris
    |April 12, 1984
    PubMed
    Summary

    This report details a new familial observation of Cohen syndrome in two sisters, highlighting key features like obesity and hypotonia. The findings support an autosomal recessive inheritance pattern, crucial for genetic counseling.

    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

    [Study of treatment adherence by patients living with HIV in 2009 at the outpatient care and treatment center of Brazzaville, Congo].

    Medecine tropicale : revue du Corps de sante colonial·2012
    Same author

    [Drug supply for HIV patients in day care centre in Republic of Congo: the French Red Cross experience].

    Medecine tropicale : revue du Corps de sante colonial·2007
    Same author

    [Informing the child and his/her family].

    Archives de pediatrie : organe officiel de la Societe francaise de pediatrie·2004
    Same author

    [Genetics, new myths and permanence of man].

    L'Encephale·2003
    Same author

    Outcome of a school screening programme for carriers of haemoglobin disease.

    Journal of medical screening·2002
    Same author

    Molecular basis of haemoglobinopathies and G6PD deficiency in the Comorian population.

    The hematology journal : the official journal of the European Haematology Association·2002

    Area of Science:

    • Genetics
    • Pediatrics
    • Medical Genetics

    Background:

    • Cohen syndrome is a rare genetic disorder characterized by specific physical and developmental features.
    • Understanding its inheritance pattern is critical for accurate diagnosis and family planning.

    Observation:

    • Presents a novel familial case of Cohen syndrome in two sisters.
    • Both patients displayed characteristic symptoms including obesity, hypotonia, mental deficiency, and facial and extremity dysmorphism.
    • The obesity pattern in Cohen syndrome is atypical, often emerging after age five.

    Findings:

    • The current observation aligns with previous literature supporting autosomal recessive inheritance for Cohen syndrome.
    • Review of 17 published cases, including 9 familial instances, refines the syndrome's diagnostic criteria.
    • Distinct facial morphology is a key diagnostic indicator.

    Implications:

    • Reinforces the importance of recognizing characteristic dysmorphic features for early diagnosis.
    • Autosomal recessive inheritance necessitates genetic counseling for affected families.
    • Further research can refine understanding of Cohen syndrome's genetic basis and clinical spectrum.

    Related Experiment Videos