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

Lethal Alleles02:41

Lethal Alleles

18.4K
Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
18.4K
Teratogenicity01:07

Teratogenicity

4.3K
The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...
4.3K

You might also read

Related Articles

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

Sort by
Same author

Indirect Revascularization for Pediatric Moyamoya Angiopathy: Insights from a Brazilian Cohort.

Journal of clinical medicine·2025
Same author

Balloon angioplasty for cerebral vasospasm in preschool children.

Interventional neuroradiology : journal of peritherapeutic neuroradiology, surgical procedures and related neurosciences·2024
Same author

[Revisiting establishments of the etiology of Turner syndrome].

Historia, ciencias, saude--Manguinhos·2009
Same author

[Opinions by physicians from the Family Health Program on four health care priorities proposed by the Agenda for Commitment to Comprehensive Child Health and Reduction of Infant Mortality].

Cadernos de saude publica·2009
Same author

[Professional health care team perception as to ostomized children discharge in a pediatric hospital unit].

Revista gaucha de enfermagem·2008
Same author

[Medical residence in pediatrics: in the field of practice].

Cadernos de saude publica·2002

Related Experiment Video

Updated: Feb 25, 2026

A Pipeline to Characterize Structural Heart Defects in the Fetal Mouse
08:19

A Pipeline to Characterize Structural Heart Defects in the Fetal Mouse

Published on: December 16, 2022

2.5K

Fetal Skeletal Lethal Dysplasia: Case Report.

Alexandre Mello Savoldi1,2,3, Maria Auxiliadora Monteiro Villar1,2,3, Heloisa Novaes Machado2,4

  • 1Center for Medical Genetics and Center for Rare Diseases, Instituto Nacional Fernandes Figueira (IFF), Fundação Oswaldo Cruz (Fiocruz), Rio de Janeiro, RJ, Brazil.

Revista Brasileira De Ginecologia E Obstetricia : Revista Da Federacao Brasileira Das Sociedades De Ginecologia E Obstetricia
|August 8, 2017
PubMed
Summary

Prenatal diagnosis of lethal skeletal dysplasia requires a team approach. This case study offers guidance on investigations, management, and genetic counseling for osteogenesis imperfecta type IIA.

More Related Videos

Skeletal Phenotype Analysis of a Conditional Stat3 Deletion Mouse Model
08:42

Skeletal Phenotype Analysis of a Conditional Stat3 Deletion Mouse Model

Published on: July 3, 2020

5.2K
Shifting Zebrafish Lethal Skeletal Mutant Penetrance by Progeny Testing
08:39

Shifting Zebrafish Lethal Skeletal Mutant Penetrance by Progeny Testing

Published on: September 1, 2017

8.1K

Related Experiment Videos

Last Updated: Feb 25, 2026

A Pipeline to Characterize Structural Heart Defects in the Fetal Mouse
08:19

A Pipeline to Characterize Structural Heart Defects in the Fetal Mouse

Published on: December 16, 2022

2.5K
Skeletal Phenotype Analysis of a Conditional Stat3 Deletion Mouse Model
08:42

Skeletal Phenotype Analysis of a Conditional Stat3 Deletion Mouse Model

Published on: July 3, 2020

5.2K
Shifting Zebrafish Lethal Skeletal Mutant Penetrance by Progeny Testing
08:39

Shifting Zebrafish Lethal Skeletal Mutant Penetrance by Progeny Testing

Published on: September 1, 2017

8.1K

Area of Science:

  • Perinatology
  • Medical Genetics
  • Fetal Medicine

Background:

  • Prenatal diagnosis of lethal fetal malformations, including lethal skeletal dysplasia (SD), presents complex clinical management challenges.
  • A multidisciplinary approach coordinated by experienced physicians is crucial for effective decision-making.

Observation:

  • Presents a case of osteogenesis imperfecta type IIA, a severe form of lethal skeletal dysplasia.
  • Highlights the importance of thorough clinical and laboratory investigations in diagnosing such conditions.

Findings:

  • Provides recommendations for organizing investigations to aid in clinical management, prognosis, and etiological diagnosis.
  • Emphasizes the role of genetic counseling for patients considering future pregnancies.

Implications:

  • Establishes a framework for managing pregnancies with suspected lethal fetal skeletal malformations.
  • Aids clinicians in providing accurate prognoses and etiological diagnoses.
  • Supports informed genetic counseling for affected families.