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

Cutis laxa with delayed development.

J G Rogers, D M Danks

    Australian Paediatric Journal
    |November 1, 1985
    PubMed
    Summary
    This summary is machine-generated.

    This study investigates an intermediate form of cutis laxa, a rare genetic skin disorder. Findings suggest it is likely an autosomal recessive condition, challenging previous X-linked dominant theories.

    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

    Reducing Potentially Preventable Dental Hospitalizations of Young Children: A Community-Level Analysis.

    JDR clinical and translational research·2019
    Same author

    The future direction of the adult heart allocation system in the United States.

    American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons·2014
    Same author

    Failure to confirm abnormal copper utilization in crinkler (cr) mice.

    Biological trace element research·2013
    Same author

    Successful organ donation after long-term circulatory support with nonpulsatile mechanical support.

    American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons·2012
    Same author

    Heat Illness in Infants and Young Children.

    British medical journal·2010
    Same author

    ANNIVERSARY DISCOURSE: The Professions in World Turmoil.

    Bulletin of the New York Academy of Medicine·2009
    Same journal

    Systemic candidiasis with DIC and candida endophthalmitis in a postoperative neonate.

    Australian paediatric journal·1989
    Same journal

    Urinary tract calculi in aboriginal children.

    Australian paediatric journal·1989
    Same journal

    Fetal echocardiography in the diagnosis of congenital heart disease.

    Australian paediatric journal·1989
    Same journal

    Infant sleeping position and cot death.

    Australian paediatric journal·1989
    Same journal

    Congenital tuberculosis.

    Australian paediatric journal·1989
    Same journal

    Radiological and clinical features of basal ganglia infarction in tuberculous meningitis.

    Australian paediatric journal·1989
    See all related articles

    Area of Science:

    • Genetics
    • Dermatology
    • Pediatrics

    Background:

    • Cutis laxa presents in distinct forms, including benign dominant and severe autosomal recessive types.
    • An intermediate form of cutis laxa, characterized by skin abnormalities, growth, and mental retardation, has been previously described.

    Observation:

    • Seven patients with this intermediate form of cutis laxa were studied.
    • All patients exhibited significant skin changes from an early age.
    • Initial assessments indicated mental retardation, which appeared less severe over time.

    Findings:

    • The observed pattern of inheritance in seven patients, including four males, makes an X-linked dominant inheritance unlikely.
    • Previous reports of consanguinity and affected siblings support an autosomal recessive inheritance pattern for this intermediate cutis laxa form.

    Related Experiment Videos

    Implications:

    • This research refines the understanding of cutis laxa inheritance patterns.
    • Accurate genetic classification is crucial for prognosis and genetic counseling in affected families.