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

Association Areas of the Cortex01:21

Association Areas of the Cortex

Association areas are regions of the cerebral cortex that do not have a specific sensory or motor function. Instead, they integrate and interpret information from various sources to enable higher cognitive processes such as memory, learning, and decision-making. Some key association areas include the following:
Prefrontal Association Area: This area is located in the frontal lobe and is involved in planning, decision-making, and moderating social behavior. It connects with primary motor areas,...

You might also read

Related Articles

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

Sort by
Same authorSame journal

Heterozygous RNF13 Truncating Variants Are Associated With Developmental and Epileptic Encephalopathy.

American journal of medical genetics. Part A·2026
Same author

Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

American journal of human genetics·2026
Same author

A Genotype/Phenotype Study of <i>KDM5B</i>-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants.

Genes·2024
Same author

Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.

Journal of medical genetics·2024
Same author

Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions.

Prenatal diagnosis·2023
Same author

Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.

American journal of human genetics·2022

Related Experiment Video

Updated: Jun 11, 2026

Full-Endoscopic Isolation Zone Technique for the Treatment of Lumbar Disc Herniation
05:42

Full-Endoscopic Isolation Zone Technique for the Treatment of Lumbar Disc Herniation

Published on: April 7, 2023

Steinfeld syndrome: Further delineation.

Cathy A Stevens1

  • 1Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, Tennessee, USA. cathy.stevens@erlanger.org

American Journal of Medical Genetics. Part A
|June 29, 2010
PubMed
Summary

Steinfeld syndrome is a rare condition with severe congenital anomalies. This study presents the first detailed genetic evaluation of a patient, suggesting an autosomal dominant inheritance pattern.

Area of Science:

  • Genetics
  • Developmental Biology
  • Medical Genetics

Background:

  • Steinfeld syndrome, first described in 1982, is a rare genetic disorder.
  • It is characterized by a constellation of severe congenital anomalies including holoprosencephaly, phocomelia, clefting, and congenital heart defects.
  • Only a few cases have been reported previously.

Observation:

  • This report details a fetus exhibiting clinical features consistent with Steinfeld syndrome.
  • This represents the first documented patient with this condition to undergo comprehensive genetic analysis.
  • The observed anomalies were holoprosencephaly, phocomelia, clefting, and congenital heart defects.

Findings:

  • Extensive genetic evaluation was performed on the affected fetus.

More Related Videos

Full Endoscopic Interlaminar Approach for Paracentral L5-S1 Disc Herniation
02:14

Full Endoscopic Interlaminar Approach for Paracentral L5-S1 Disc Herniation

Published on: April 14, 2023

Transforaminal Full-Endoscopic Lumbar Foraminotomy Under Local Anesthesia for L5/S1 Adjacent Segment Foraminal Stenosis
07:44

Transforaminal Full-Endoscopic Lumbar Foraminotomy Under Local Anesthesia for L5/S1 Adjacent Segment Foraminal Stenosis

Published on: October 17, 2025

Related Experiment Videos

Last Updated: Jun 11, 2026

Full-Endoscopic Isolation Zone Technique for the Treatment of Lumbar Disc Herniation
05:42

Full-Endoscopic Isolation Zone Technique for the Treatment of Lumbar Disc Herniation

Published on: April 7, 2023

Full Endoscopic Interlaminar Approach for Paracentral L5-S1 Disc Herniation
02:14

Full Endoscopic Interlaminar Approach for Paracentral L5-S1 Disc Herniation

Published on: April 14, 2023

Transforaminal Full-Endoscopic Lumbar Foraminotomy Under Local Anesthesia for L5/S1 Adjacent Segment Foraminal Stenosis
07:44

Transforaminal Full-Endoscopic Lumbar Foraminotomy Under Local Anesthesia for L5/S1 Adjacent Segment Foraminal Stenosis

Published on: October 17, 2025

  • The findings suggest an autosomal dominant inheritance pattern for Steinfeld syndrome.
  • The syndrome demonstrates significant variability in its clinical expression.

    • Implications:

    • This genetic insight advances the understanding of Steinfeld syndrome's etiology.
    • Identifying the genetic basis is crucial for accurate diagnosis and genetic counseling.
    • Further research into the genetic mechanisms can inform potential therapeutic strategies.