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 Concept Videos

Pleiotropy01:33

Pleiotropy

31.2K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
31.2K
Prosopagnosia01:24

Prosopagnosia

1.3K
Prosopagnosia, also known as face blindness, is the inability to recognize faces. In severe cases, individuals with prosopagnosia may not recognize close family members, including parents and spouses, by their faces. For instance, someone with prosopagnosia might walk past their child in a crowd, only realizing their mistake upon noticing their child's distinctive backpack or favorite jacket. Prosopagnosia specifically impairs facial recognition, while the recognition of other objects or...
1.3K
Autism Spectrum Disorder01:19

Autism Spectrum Disorder

2.0K
Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
2.0K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

The Intersection of Heart Failure and Chronic Kidney Disease: Challenges in Co-management.

Cureus·2026
Same author

A Narrative Review of Digital Addiction and Health: A New Challenge for Modern Medicine.

Cureus·2026
Same author

A Cross-Sectional Study to Compare AI-Generated Educational Content Using Google Gemini for Medical Professionals With UpToDate on Pediatric Asthma.

Cureus·2026
Same author

Cardiovascular Implications of Intermittent Hypoxia: A Comprehensive Narrative Review.

Cureus·2025
Same author

Dual malignancies: a case report of the sequential occurrence of a trichilemmal tumor and breast carcinoma in a 56-year-old female.

Frontiers in oncology·2025
Same author

Juvenile systemic sclerosis with rapid progression and multisystem involvement in an adolescent.

BMJ case reports·2025

Related Experiment Video

Updated: Apr 30, 2026

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
07:50

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

Published on: September 20, 2018

15.9K

Weyers Acrofacial Dysostosis: A Case Report.

Aditya M Jain1, Amar Taksande1, Sarika Gaikwad1

  • 1Department of Pediatrics, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Wardha, IND.

Cureus
|February 29, 2024
PubMed
Summary

Weyers acrofacial dysostosis (WAD) is a rare genetic disorder causing dental anomalies, polydactyly, nail dystrophy, and short stature. This case highlights a 15-year-old girl with typical WAD symptoms, aiding in understanding this skeletal dysplasia.

Area of Science:

  • Genetics
  • Medical Genetics
  • Skeletal Dysplasias

Background:

  • Weyers acrofacial dysostosis (WAD) is a rare, autosomal-dominant skeletal dysplasia.
Keywords:
acrodental dysostosiscurry‑hall syndromemicrodontiaonychodystrophypolydactyly

More Related Videos

Treatment of Facial Deformities using 3D Planning and Printing of Patient-Specific Implants
07:11

Treatment of Facial Deformities using 3D Planning and Printing of Patient-Specific Implants

Published on: May 23, 2020

7.4K
Author Spotlight: Three-Dimensional Cephalometric Landmark Annotation Demonstration on Human Cone Beam Computed Tomography Scans
10:23

Author Spotlight: Three-Dimensional Cephalometric Landmark Annotation Demonstration on Human Cone Beam Computed Tomography Scans

Published on: September 8, 2023

2.7K

Related Experiment Videos

Last Updated: Apr 30, 2026

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
07:50

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

Published on: September 20, 2018

15.9K
Treatment of Facial Deformities using 3D Planning and Printing of Patient-Specific Implants
07:11

Treatment of Facial Deformities using 3D Planning and Printing of Patient-Specific Implants

Published on: May 23, 2020

7.4K
Author Spotlight: Three-Dimensional Cephalometric Landmark Annotation Demonstration on Human Cone Beam Computed Tomography Scans
10:23

Author Spotlight: Three-Dimensional Cephalometric Landmark Annotation Demonstration on Human Cone Beam Computed Tomography Scans

Published on: September 8, 2023

2.7K
  • Key features include dental anomalies, polydactyly, nail dystrophy, and short stature.
  • WAD shares genetic mapping on chromosome 4p16 with Ellis-van Creveld (EVC) syndrome, though EVC often involves heart defects.