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

Teratogenicity01:07

Teratogenicity

4.4K
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...
4.4K
Pleiotropy01:33

Pleiotropy

43.7K
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,...
43.7K
Autism Spectrum Disorder01:19

Autism Spectrum Disorder

1.4K
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.
1.4K
Neurulation01:30

Neurulation

46.7K
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...
46.7K
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

37.8K
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...
37.8K

You might also read

Related Articles

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

Sort by
Same author

Acetazolamide-Responsive Exertion-Triggered Episodic Ataxia in DHDDS-Related Congenital Disorder of Glycosylation.

Movement disorders clinical practice·2026
Same author

The clinical utility of functional testing in fibroblasts to diagnose primary mitochondrial disease.

medRxiv : the preprint server for health sciences·2026
Same author

The vascular-osteogenic interface in craniofacial development: a structured review of emerging associations in congenital malformations.

Developmental biology·2026
Same author

Mitochondrial DNA heteroplasmy drives cortical neuronal disturbances in human organoids harbouring the common m.3243A>G mutation.

Nature communications·2026
Same authorSame journal

Vascular Mechanisms in the Etiology of Hemifacial Microsomia: A Systematic Review of Epidemiological, Clinical, and Genetic Evidence.

Birth defects research·2026
Same author

Enrichment of Rare Mitochondrial DNA Variants Among Individuals With Kidney Disease Reveals Undiagnosed Mitochondrial Disease.

Kidney international reports·2026
Same journal

Preventive Dental Care Utilization and Infective Endocarditis Among Georgia Medicaid Beneficiaries With Congenital Heart Defects, 2008-2019.

Birth defects research·2026
Same journal

Pattern of Agreement Among Medications Used During Pregnancy as Recorded in Self-Report and Administrative Claims From California.

Birth defects research·2026
Same journal

Lessons Learned From the COVID-19 Vaccines International Pregnancy Exposure Registry: Insights for Designing and Implementing Global Pregnancy Safety Studies.

Birth defects research·2026
Same journal

Parenchymal Disruption of Thyroid Gland in Rat Offspring Following Maternal Khat Exposure.

Birth defects research·2026
Same journal

Prevalence, Temporal Trends, Diversity, and Associated Risk Factors of Isolated Cleft Lip With or Without Cleft Palate: A 20-Year Retrospective Hospital-Based Study in Iran (2003-2023).

Birth defects research·2026
See all related articles

Related Experiment Video

Updated: Mar 2, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

9.2K

Sirenomelia: A Multi-systemic Polytopic Field Defect with Ongoing Controversies.

Lucas L Boer1, Eva Morava2, Willemijn M Klein3

  • 1Department of Anatomy and Museum for Anatomy and Pathology, Radboud University Medical Center, Nijmegen, The Netherlands.

Birth Defects Research
|May 17, 2017
PubMed
Summary
This summary is machine-generated.

Sirenomelia, a rare limb malformation, presents unique challenges in understanding its causes and associations. This study reviews current theories and presents a case of VACTERL-H association with sirenomelia, highlighting the condition

Keywords:
VACTERLVACTERL-HVATERanatomical museumblastogenesiscaudal dysgenesismermaid syndromesirenomeliateratology

More Related Videos

Author Spotlight: Studying Clinical Characters and Epilepsy Outcomes After Frontal Disconnection in Patients with MOGHE
06:04

Author Spotlight: Studying Clinical Characters and Epilepsy Outcomes After Frontal Disconnection in Patients with MOGHE

Published on: August 16, 2024

1.7K
In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

21.4K

Related Experiment Videos

Last Updated: Mar 2, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

9.2K
Author Spotlight: Studying Clinical Characters and Epilepsy Outcomes After Frontal Disconnection in Patients with MOGHE
06:04

Author Spotlight: Studying Clinical Characters and Epilepsy Outcomes After Frontal Disconnection in Patients with MOGHE

Published on: August 16, 2024

1.7K
In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

21.4K

Area of Science:

  • Developmental Biology
  • Medical Genetics
  • Teratology

Background:

  • Sirenomelia is a rare congenital anomaly characterized by a fused single lower limb.
  • It is frequently associated with severe gastrointestinal and genitourinary anomalies.
  • The nosology, pathogenesis, and genetic etiology of sirenomelia remain subjects of debate.

Purpose of the Study:

  • To review current hypotheses on the etiology and pathogenesis of sirenomelia.
  • To explore the syndromic continuum of sirenomelia with other caudal malformations.
  • To present a case study of sirenomelia in the context of VACTERL-H association.

Main Methods:

  • Literature review of contemporary hypotheses and conceptual approaches.
  • Detailed external and internal dysmorphological examination of a third-trimester sirenomelic fetus.
  • Analysis of concomitant anomalies in relation to classic sirenomelia.

Main Results:

  • Sirenomelia may represent a spectrum of caudal malformations arising from early blastogenesis defects.
  • The condition can overlap with caudal dysgenesis and VATER/VACTERL/VACTERL-H associations.
  • A case diagnosed with VACTERL-H association with sirenomelia exhibited discordant anomalies.

Conclusions:

  • Sirenomelia's pathogenesis may involve primary field defects, potentially with genetic underpinnings.
  • Understanding sirenomelia requires considering its place within a broader spectrum of developmental disorders.
  • Further research is needed to clarify the complex etiology and classification of sirenomelia and associated conditions.