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

Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

35.6K
Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
35.6K
Human Genetics01:28

Human Genetics

849
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
849
Mutations01:39

Mutations

85.8K
Overview
85.8K
Sutures of the Skull01:22

Sutures of the Skull

8.5K
The human skull is composed of several bones that come together to protect the brain and support the structures of the face. The junctions where these bones meet are called sutures.
Sutures are immobile joints between adjacent bones of the skull. The narrow gap between the bones is filled with dense, fibrous connective tissue that unites the bones. The long sutures located between the skull bones are not straight but instead follow irregular, tightly twisting paths. These twisting lines tightly...
8.5K
Incomplete Dominance01:43

Incomplete Dominance

27.8K
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
27.8K
Sex-linked Disorders01:43

Sex-linked Disorders

103.8K
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
103.8K

You might also read

Related Articles

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

Sort by
Same author

[GPs' assessment of the reform of the psychotherapy guideline].

Gesundheitswesen (Bundesverband der Arzte des Offentlichen Gesundheitsdienstes (Germany))·2026
Same author

Multimodal imaging reveals resilient memory networks in carriers of pathogenic ARID1B variants.

Translational psychiatry·2026
Same author

[TSS in the care of people with mental illness - results of a survey of psychotherapists].

Psychiatrische Praxis·2026
Same author

Motivations and experiences of high-risk men in risk-adapted prostate cancer early detection: A qualitative study.

Patient education and counseling·2026
Same author

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Nature genetics·2026
Same author

Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants.

Epilepsia·2026

Related Experiment Video

Updated: Oct 19, 2025

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

3.2K

Genetics of craniofacial malformations.

Ariane Schmetz1, Jeanne Amiel2, Dagmar Wieczorek1

  • 1Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Germany.

Seminars in Fetal & Neonatal Medicine
|September 25, 2021
PubMed
Summary

This review details key craniofacial malformation syndromes relevant to pediatricians and neonatologists, including craniosynostoses and rare conditions like Treacher Collins syndrome.

Keywords:
Craniofacial malformation syndromeCraniosynostosisGenetic counsellingGoldenhar syndromeMolecular testingOculo-auriculo-vertebral spectrumPierre Robin sequenceTreacher Collins syndrome

More Related Videos

Analysis of Craniomaxillofacial Malformations in Mice Using Three-dimensional Microcomputed Tomography
02:42

Analysis of Craniomaxillofacial Malformations in Mice Using Three-dimensional Microcomputed Tomography

Published on: January 17, 2025

511
Separation of Mouse Embryonic Facial Ectoderm and Mesenchyme
08:36

Separation of Mouse Embryonic Facial Ectoderm and Mesenchyme

Published on: April 12, 2013

11.2K

Related Experiment Videos

Last Updated: Oct 19, 2025

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

3.2K
Analysis of Craniomaxillofacial Malformations in Mice Using Three-dimensional Microcomputed Tomography
02:42

Analysis of Craniomaxillofacial Malformations in Mice Using Three-dimensional Microcomputed Tomography

Published on: January 17, 2025

511
Separation of Mouse Embryonic Facial Ectoderm and Mesenchyme
08:36

Separation of Mouse Embryonic Facial Ectoderm and Mesenchyme

Published on: April 12, 2013

11.2K

Area of Science:

  • Pediatrics
  • Genetics
  • Craniofacial Surgery

Background:

  • Craniofacial malformations encompass a wide spectrum of conditions, many of which are ultrarare.
  • Pediatricians and neonatologists require focused information on clinically significant syndromes.

Purpose of the Study:

  • To provide a detailed overview of select craniofacial malformation syndromes.
  • To discuss diagnostic and therapeutic options for these conditions.

Main Methods:

  • Literature review focusing on specific craniofacial malformation syndromes.
  • Synthesis of information on diagnosis and treatment.

Main Results:

  • Detailed descriptions of craniosynostoses, oculo-auriculo-vertebral spectrum, Pierre Robin sequence, and Treacher Collins syndrome.
  • Discussion of current diagnostic and therapeutic approaches.

Conclusions:

  • Understanding these specific syndromes is crucial for effective pediatric and neonatal care.
  • Further research and standardized management protocols are needed.