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

Oculodento-osseous dysplasia: heterogeneity or variable expression?

P Beighton, H Hamersma, M Raad

    Clinical Genetics
    |September 1, 1979
    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

    Creating Novel Standards for Datapoints on an Elective Orthopaedic Theatre List Document.

    Malaysian orthopaedic journal·2024
    Same author

    Survival bias may explain the appearance of the obesity paradox in hip fracture patients.

    Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA·2021
    Same author

    Namaqualand hip dysplasia in South Africa: The molecular determinant elucidated.

    South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde·2021
    Same author

    Atypical mycobacterium infection of sternoclavicular joint: A unique case.

    Shoulder & elbow·2020
    Same author

    Upregulated miR-410 is linked to poor prognosis in colorectal cancer.

    British journal of biomedical science·2020
    Same author

    Association of rs2620381 polymorphism in miR-627 and gastric cancer.

    British journal of biomedical science·2020

    Oculodento-osseous dysplasia (ODOD) in South African patients presented with severe cranial and mandibular overgrowth, and neurological complications. Autosomal recessive inheritance is suggested, differing from the typical dominant form.

    Area of Science:

    • Medical Genetics
    • Clinical Dysmorphology

    Background:

    • Oculodento-osseous dysplasia (ODOD) is a rare genetic disorder.
    • Typically inherited in an autosomal dominant pattern.

    Observation:

    • Three South African patients from two kindreds exhibited ODOD with severe cranial hyperostosis and mandibular overgrowth.
    • Neurological complications, including spinal cord compression and basal ganglia calcification, were noted in survivors.
    • Affected individuals resulted from consanguineous marriages between clinically normal relatives.

    Findings:

    • The observed severe manifestations and family history suggest a potential autosomal recessive form of ODOD.
    • This contrasts with the usual autosomal dominant inheritance pattern, indicating possible genetic heterogeneity.
    • Phenotypic variability was observed, with some relatives showing minimal stigmata.

    Related Experiment Videos

    Implications:

    • Recognition of a distinct autosomal recessive ODOD may refine genetic counseling and diagnosis.
    • Understanding ODOD heterogeneity is crucial for accurate genetic assessment and management.
    • Further research is needed to differentiate between dominant and recessive forms of ODOD.