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

Anthropometric craniofacial pattern profiles in Down syndrome

J E Allanson1, P O'Hara, L G Farkas

  • 1Children's Hospital of Eastern Ontario, Ottawa, Canada.

American Journal of Medical Genetics
|October 1, 1993
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

Alterations in circulating lymphoid cell populations in systemic small vessel vasculitis are non-specific manifestations of renal injury.

Clinical and experimental immunology·2017
Same author

A comparison of clinical outcomes between healthcare-associated infections due to community-associated methicillin-resistant Staphylococcus aureus strains and healthcare-associated methicillin-resistant S. aureus strains.

Epidemiology and infection·2012
Same author

A comparison of younger-aged and older-aged women in a behavioral self-control smoking program.

Patient education and counseling·2011
Same author

Misuse of statistical terminology.

Canadian Medical Association journal·2010
Same author

Fetal macrosomia and adolescence obesity: results from a longitudinal cohort study.

International journal of obesity (2005)·2009
Same author

Face-brain asymmetry in autism spectrum disorders.

Molecular psychiatry·2008

Anthropometric craniofacial measurements in Down syndrome (DS) reveal characteristic facial changes with age, including reduced ear length and altered maxillary-mandibular growth. These profiles accurately identify individuals with DS, aiding syndrome recognition.

Area of Science:

  • Medical Science
  • Genetics
  • Anthropology

Background:

  • Down syndrome (DS) is a genetic disorder associated with distinct craniofacial features.
  • Understanding craniofacial development in DS is crucial for diagnosis and management.
  • Previous studies have identified some craniofacial anomalies in DS, but detailed age-related changes require further investigation.

Purpose of the Study:

  • To characterize anthropometric craniofacial measurements in individuals with Down syndrome (DS) across a wide age range.
  • To identify specific craniofacial features and growth patterns associated with DS.
  • To evaluate the utility of craniofacial pattern profiles for DS identification.

Main Methods:

  • Collected 21 anthropometric craniofacial measurements from 199 individuals with DS (6 months to 61 years).

Related Experiment Videos

  • Compared measurements to age- and sex-matched normal standards to create Z score pattern profiles.
  • Employed stepwise forward discriminant function analysis to identify key classifying variables.

    • Main Results:

    • Confirmed brachycephaly (short head) and reduced ear length in individuals with DS.
    • Observed reduced maxillary growth relative to mandibular growth with increasing age, altering facial shape.
    • A subset of three variables (ear length, maxillary arc, upper facial depth) accurately classified over 99% of individuals.

    Conclusions:

    • Anthropometric craniofacial pattern profiles effectively define abnormal facial dimensions in DS and track age-related changes.
    • This technique demonstrates high accuracy in classifying individuals with and without DS (96.8% of DS subjects correctly classified).
    • The method shows promise for facilitating syndrome recognition, carrier identification, and inter-syndrome comparisons.