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

[Syndromes. 1. Cleidocranial dysplasia].

H P Freihofer1

  • 1Afdeling Mond- en Kaakchirurgie van het Academisch Ziekenhuis Nijmegen.

Nederlands Tijdschrift Voor Tandheelkunde
|April 4, 2002
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

[Syndromes 9. Hemifacial microsomia].

Nederlands tijdschrift voor tandheelkunde·2002
Same author

[Syndromes 11. Treacher collins syndrome].

Nederlands tijdschrift voor tandheelkunde·2002
Same author

[Syndromes 7. Hypertelorism (Greig syndrome)].

Nederlands tijdschrift voor tandheelkunde·2002
Same author

[Syndromes 6. Crouzon's disease].

Nederlands tijdschrift voor tandheelkunde·2002
Same author

[Single or double?].

Nederlands tijdschrift voor tandheelkunde·2002
Same author

[Syndromes 2. Pfeiffer syndrome].

Nederlands tijdschrift voor tandheelkunde·2002

Cleidocranial dysplasia is a genetic disorder affecting skull and bone development, causing distinctive facial features, dental issues, and skeletal abnormalities. It is inherited in an autosomal dominant pattern, with new mutations also occurring.

Area of Science:

  • Genetics
  • Developmental Biology
  • Orthopedics

Context:

  • Cleidocranial dysplasia (CCD) is a rare genetic disorder impacting bone development.
  • Characterized by specific craniofacial and skeletal abnormalities.
  • Understanding its genetic basis and phenotypic manifestations is crucial for diagnosis and management.

Purpose:

  • To outline the key clinical and genetic features of cleidocranical dysplasia.
  • To provide a comprehensive overview of the condition's presentation.
  • To highlight the autosomal dominant inheritance pattern and the occurrence of new mutations.

Summary:

  • Cleidocranial dysplasia presents with a characteristic skull deformity, hypoplastic midface, and dental anomalies (delayed eruption, supernumerary teeth).

Related Experiment Videos

  • Skeletal defects include clavicular hypoplasia or aplasia, short stature, and other bone malformations.
  • The condition follows autosomal dominant inheritance, with a significant rate of spontaneous new mutations.

    • Impact:

    • Improved understanding of cleidocranial dysplasia for clinicians and researchers.
    • Facilitates accurate diagnosis and genetic counseling.
    • Contributes to the knowledge base of skeletal dysplasias and genetic disorders.