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

Cranial Bones: Lateral View01:27

Cranial Bones: Lateral View

4.1K
The lateral view of the cranium is dominated by temporal, sphenoid, and ethmoid bones.
The temporal bone forms the lower lateral side of the skull. The temporal bone is subdivided into several regions. The flattened upper portion is the squamous portion of the temporal bone. Below this area and projecting anteriorly is the zygomatic process of the temporal bone, which forms the posterior portion of the zygomatic arch. Posteriorly is the mastoid portion of the temporal bone. Projecting...
4.1K
Overview of the Axial Skeleton01:09

Overview of the Axial Skeleton

8.6K
The skeleton is subdivided into two major divisions—the axial skeleton and the appendicular skeleton. The axial skeleton forms the vertical, central axis of the body. It includes all of the bones of the head, neck, chest, and back. It protects the brain, spinal cord, heart, and lungs. It also serves as the attachment site for muscles that move the head, neck, and back and for muscles that act across the shoulder and hip joints to move their corresponding limbs.
The axial skeleton of the...
8.6K
Anatomy of the Eyeball01:20

Anatomy of the Eyeball

9.1K
The eye is a spherical, hollow structure composed of three tissue layers. The outer layer — the fibrous tunic, comprises the sclera — a white structure — and the cornea, which is transparent. The sclera encompasses some of the ocular surface, most of which is not visible. However, the 'white of the eye' is distinctively visible in humans compared to other species. The cornea, a clear covering at the front of the eye, enables light penetration. The eye's middle...
9.1K
Neurulation01:30

Neurulation

44.6K
Neurulation is the embryological process which forms the precursors of the central nervous system and occurs after gastrulation has established the three primary cell layers of the embryo: ectoderm, mesoderm, and endoderm. In humans, the majority of this system is formed via primary neurulation, in which the central portion of the ectoderm—originally appearing as a flat sheet of cells—folds upwards and inwards, sealing off to form a hollow neural tube. As development proceeds, the...
44.6K
Cranial Bones: Superior and Posterior View01:14

Cranial Bones: Superior and Posterior View

4.6K
The superior view of the cranium shows the frontal and paired parietal bones.
The frontal bone is the single bone that forms the forehead. At its anterior midline, between the eyebrows, there is a slight depression called the glabella. The frontal bone also forms the supraorbital margin of the orbit. Near the middle of this margin is the supraorbital foramen, the opening that provides passage for a sensory nerve to the forehead. The frontal bone is thickened just above each supraorbital margin,...
4.6K
Cranial Nerves: Overview and Anatomy01:19

Cranial Nerves: Overview and Anatomy

4.0K
The cranial nerves are an important part of the complex network of nerves in the human body. These nerves emerge directly from the brain and are responsible for transmitting essential information between the brain and various parts of the head and neck. There are 12 pairs of cranial nerves, systematically numbered using Roman numerals from I to XII, beginning from the anterior and moving to the posterior of the brain. Each cranial nerve is uniquely identified by names that reflect its function...
4.0K

You might also read

Related Articles

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

Sort by
Same author

PIGO Gene Variants: New Insights Into Prenatal Diagnosis.

Prenatal diagnosis·2025
Same author

Placental lesions induced by Omicron SARS-CoV-2 in a pregnant woman treated with anti-CD20.

Placenta·2025
Same author

Risk of Congenital Ocular Anomaly After Prenatal Exposure to Medications: A EUROmediCAT Study.

Birth defects research·2025
Same author

Artifacts and main lesions in fetal ocular histology.

Morphologie : bulletin de l'Association des anatomistes·2022
Same author

Fetal death and placental lesions after two COVID-19 episodes in single pregnancy in unvaccinated woman.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology·2022
Same author

Prenatal diagnosis of Norrie disease based on ultrasound findings.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology·2018
Same journal

Effect of a cannabidiol-based mouthwash on dental enamel properties and biofilm control: an In situ study.

Clinical oral investigations·2026
Same journal

Relationship between C-shaped root canal configuration in mandibular second molars and radix entomolaris in mandibular first molars: a CBCT-based study in a Western Chinese population.

Clinical oral investigations·2026
Same journal

Increased TET3 expression associates with proinflammatory cytokines and reduced 5-hydroxymethylcytosine in periapical lesions.

Clinical oral investigations·2026
Same journal

Safer and faster: evaluation of a dental implant checklist.

Clinical oral investigations·2026
Same journal

Correction to: Caries prevention in permanent teeth - basic recommendations of the German S 3 guideline.

Clinical oral investigations·2026
Same journal

Preparation and In Vitro Characterization of Quercetin and Chlorhexidine-loaded PLGA Nanoparticles for Oral Biofilm-Associated Pathologies.

Clinical oral investigations·2026
See all related articles

Related Experiment Video

Updated: Dec 15, 2025

Multi-Photon Time Lapse Imaging to Visualize Development in Real-time: Visualization of Migrating Neural Crest Cells in Zebrafish Embryos
10:13

Multi-Photon Time Lapse Imaging to Visualize Development in Real-time: Visualization of Migrating Neural Crest Cells in Zebrafish Embryos

Published on: August 9, 2017

8.0K

Re-focusing on Agnathia-Otocephaly complex.

C Dubucs1,2, N Chassaing1,3, C Sergi4

  • 1Service de Génétique Médicale, Hôpital Purpan, CHU Toulouse, Toulouse, France.

Clinical Oral Investigations
|July 10, 2020
PubMed
Summary
This summary is machine-generated.

Genetic testing for agnathia-otocephaly complex identified mutations in OTX2 and PRRX1 in only one-third of patients. This highlights the need for further research into other genetic factors contributing to this rare and severe developmental disorder.

Keywords:
Agnathia-otocephaly complexCNBPCraniofacial developmentOTX2PRRX1Treacher–Collins syndrome

More Related Videos

Optimized Ex-ovo Culturing of Chick Embryos to Advanced Stages of Development
05:47

Optimized Ex-ovo Culturing of Chick Embryos to Advanced Stages of Development

Published on: January 24, 2015

14.3K
Dissection of the Auditory Bulla in Postnatal Mice: Isolation of the Middle Ear Bones and Histological Analysis
07:40

Dissection of the Auditory Bulla in Postnatal Mice: Isolation of the Middle Ear Bones and Histological Analysis

Published on: January 4, 2017

31.4K

Related Experiment Videos

Last Updated: Dec 15, 2025

Multi-Photon Time Lapse Imaging to Visualize Development in Real-time: Visualization of Migrating Neural Crest Cells in Zebrafish Embryos
10:13

Multi-Photon Time Lapse Imaging to Visualize Development in Real-time: Visualization of Migrating Neural Crest Cells in Zebrafish Embryos

Published on: August 9, 2017

8.0K
Optimized Ex-ovo Culturing of Chick Embryos to Advanced Stages of Development
05:47

Optimized Ex-ovo Culturing of Chick Embryos to Advanced Stages of Development

Published on: January 24, 2015

14.3K
Dissection of the Auditory Bulla in Postnatal Mice: Isolation of the Middle Ear Bones and Histological Analysis
07:40

Dissection of the Auditory Bulla in Postnatal Mice: Isolation of the Middle Ear Bones and Histological Analysis

Published on: January 4, 2017

31.4K

Area of Science:

  • Developmental biology
  • Human genetics
  • Medical research

Background:

  • Agnathia-otocephaly complex is a rare, severe first branchial arch anomaly with high lethality.
  • Known genetic causes include mutations in OTX2 and PRRX1, but many cases remain undiagnosed.
  • CNBP gene mutations in mice cause similar defects, suggesting potential involvement in human cases.

Purpose of the Study:

  • To screen patients with agnathia-otocephaly complex for mutations in CNBP, OTX2, and PRRX1.
  • To estimate the proportion of genetically explained cases by reviewing literature data.
  • To assess the role of CNBP in the human agnathia-otocephaly complex phenotype.

Main Methods:

  • Analysis of 10 patients with agnathia-otocephaly complex using array-CGH and Sanger sequencing for OTX2, PRRX1, and CNBP.
  • Comprehensive literature review of cases diagnosed between 1998-2019.
  • Compilation of genetic testing results from the cohort and literature.

Main Results:

  • No point mutations were found in OTX2, PRRX1, or CNBP in the 10-patient cohort.
  • A 107-kb deletion encompassing OTX2 was identified in one patient via array-CGH.
  • Literature review and cohort data combined showed only 34% of genetically tested patients (11/32) had mutations in OTX2 or PRRX1.

Conclusions:

  • Mutations in OTX2 and PRRX1 explain approximately one-third of agnathia-otocephaly complex cases.
  • The genetic basis remains unknown for the majority of patients, indicating other factors are involved.
  • CNBP mutations were not found in this study, suggesting limited or no role in human agnathia-otocephaly complex, though further screening is warranted.