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

Perspectives on craniofacial syndromes.

M M Cohen1, S Kreiborg

  • 1Department of Oral & Maxillofacial Pathology, Dalhousie University, Halifax, Nova Scotia, Canada.

Acta Odontologica Scandinavica
|March 5, 1999
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

Confirmation of an oroacral pattern of anomalies: a disruption?

American journal of medical genetics·1992
Same author

Bannayan-Riley-Ruvalcaba syndrome.

American journal of medical genetics·1992
Same author

Perspectives on holoprosencephaly: Part II. Central nervous system, craniofacial anatomy, syndrome commentary, diagnostic approach, and experimental studies.

Journal of craniofacial genetics and developmental biology·1992
Same author

Laparoscopic cholecystectomy: the anaesthetist's point of view.

Canadian journal of anaesthesia = Journal canadien d'anesthesie·1992
Same author

Discovery and expository methods in teaching visual consonant and word identification.

Journal of speech and hearing research·1992
Same author

Beare-Stevenson cutis gyrata syndrome.

American journal of medical genetics·1992

This review covers syndrome classification, anomaly types, and their relationships. It also discusses syndrome delineation, prevalence, nomenclature, molecular aspects, and genotype-phenotype correlations for genetic disorders.

Area of Science:

  • Medical Genetics
  • Clinical Dysmorphology
  • Syndromology

Background:

  • Syndromes are complex genetic disorders with diverse manifestations.
  • Accurate classification and delineation are crucial for diagnosis and research.

Purpose of the Study:

  • To provide a comprehensive review of key aspects in syndromology.
  • To consolidate current knowledge on syndrome classification, delineation, and molecular basis.

Main Methods:

  • Literature review of syndromology, genetics, and dysmorphology.
  • Synthesis of information on syndrome classification, nomenclature, and correlations.

Main Results:

  • Detailed examination of syndrome classification systems.

Related Experiment Videos

  • Analysis of anomaly interrelations and their impact on syndrome delineation.
  • Overview of birth prevalence, nomenclature, and molecular delineation strategies.
  • Discussion of phenotype/genotype correlations in various syndromes.

    • Conclusions:

    • Effective syndrome management relies on robust classification and delineation.
    • Understanding molecular underpinnings enhances genotype-phenotype correlation accuracy.
    • Standardized nomenclature and prevalence data are vital for clinical practice and research.