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

New syndrome in three affected siblings

J P Crane, R L Heise

    Pediatrics
    |August 1, 1981
    PubMed
    Summary

    A new genetic syndrome is described, characterized by skull, facial, and skeletal abnormalities. Autosomal recessive inheritance is suspected, with successful prenatal diagnosis via ultrasound.

    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

    S1P lyase inhibition prevents lung injury following high pressure-controlled mechanical ventilation in aging mice.

    Experimental gerontology·2022
    Same author

    Inflammation and Monocyte Recruitment due to Aging and Mechanical Stretch in Alveolar Epithelium are Inhibited by the Molecular Chaperone 4-phenylbutyrate.

    Cellular and molecular bioengineering·2018
    Same author

    The effect of immunization against GnRF on nutrient requirements of male pigs: a review.

    Animal : an international journal of animal bioscience·2013
    Same author

    Prevalence and relationships of sensory taint, 5α-androstenone and skatole in fat and lean tissue from the loin (Longissimus dorsi) of barrows, gilts, sows, and boars from selected abattoirs in the United States.

    Meat science·2011
    Same author

    Is genetic amniocentesis warranted when isolated choroid plexus cysts are found?

    Prenatal diagnosis·1996
    Same author

    The clinical significance of ultransonographically detected subchorionic hemorrhages.

    American journal of obstetrics and gynecology·1996

    Area of Science:

    • Medical Genetics
    • Developmental Biology
    • Clinical Dysmorphology

    Background:

    • Syndromic conditions present complex diagnostic challenges.
    • Understanding novel genetic disorders is crucial for accurate diagnosis and management.
    • Detailed phenotypic descriptions aid in identifying new disease entities.

    Observation:

    • A novel syndrome is presented with a distinct constellation of anomalies.
    • Key features include a poorly mineralized calvarium and dysmorphic facial features such as cleft lip/palate, micrognathia, upturned nares, and ocular hypertelorism.
    • Extracranial and musculoskeletal anomalies are prominent, including absent cervical vertebrae and clavicles, talipes equinovarus, and soft tissue syndactyly.

    Findings:

    • The syndrome exhibits a specific pattern of craniofacial and skeletal malformations.
    • Autosomal recessive inheritance is the most probable mode of transmission based on the observed pattern.
    • Ultrasonography proved effective for prenatal diagnosis in at-risk pregnancies.

    Implications:

    • This report expands the spectrum of known genetic syndromes.
    • Early identification through prenatal diagnosis can inform clinical management and genetic counseling.
    • Further research into the underlying genetic basis is warranted to elucidate the molecular mechanisms involved.

    Related Experiment Videos