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 Experiment Videos

[Small deletion--large effect].

K Lüerssen1, M Pruggmayer, M Ptok

  • 1Klinik und Poliklinik für Phoniatrie und Pädaudiologie, Medizinische Hochschule Hannover.

HNO
|March 9, 2004
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

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

Sort by
Same author

Droplet applicator module for reproducible and controlled endoscopic laryngeal adductor reflex stimulation.

Biomicrofluidics·2020
Same author

[Guideline: Auditory Processing and Perception Disorders: Diagnostics : S1-Guideline of The German Society of Phoniatrics and Pediatric Audiology].

HNO·2019
Same author

[Guideline: Auditive Processing and Perception Disorders: Definition : Guideline of the German Society of Phoniatrics and Pediatric Audiology].

HNO·2018
Same author

[High-resolution manometry of pharyngeal swallowing dynamics].

HNO·2017
Same author

[Laryngeal and larynx-associated reflexes].

HNO·2016
Same author

[Diagnosis of auditory processing disorders in children].

HNO·2016
Same journal

[The digits-in-noise test in audiological cochlear implant aftercare].

HNO·2026
Same journal

[Complications of acute otitis media].

HNO·2026
Same journal

HNO·2026
Same journal

[Facial fillers: evidence base, anatomical principles, materials, risks, techniques, and future perspectives].

HNO·2026
Same journal

Prevention in otology-the key to lifelong hearing health.

HNO·2026
Same journal

[Bilateral low-frequency hearing loss and tinnitus following spinal anesthesia during a cesarean section].

HNO·2026
See all related articles

Velocardiofacial syndrome (VCFS), also known as Shprintzen's syndrome, is linked to 22q11 deletion. Early genetic testing is crucial for diagnosing VCFS when symptoms like cleft palate or heart defects appear.

Area of Science:

  • Genetics
  • Pediatrics
  • Otolaryngology

Context:

  • Velocardiofacial syndrome (VCFS), or Shprintzen's syndrome, presents with a range of symptoms including cleft palate, cardiac defects, facial dysmorphies, and learning difficulties.
  • VCFS shares phenotypic overlap with DiGeorge syndrome (DGS).
  • A partial 22q11 monosomy was identified in VCFS patients in 1992, with deletion sites often similar to those in DGS.

Purpose:

  • To highlight the importance of recognizing VCFS symptoms for otolaryngologists.
  • To emphasize the need for cardiac evaluation in patients with characteristic middle ear effects and submucosal cleft palate.
  • To advocate for genetic examination for early and accurate VCFS diagnosis.

Summary:

  • VCFS is characterized by high incidences of cleft palate (69%), heart defects (74%), and learning difficulties (70-90%).

Related Experiment Videos

  • The syndrome is associated with a partial 22q11 deletion, similar to DiGeorge syndrome.
  • Otolaryngologists should consider cardiac defects and submucosal cleft palate as indicators for genetic testing.

    • Impact:

    • Facilitates early diagnosis of VCFS through recognition of key clinical signs.
    • Promotes interdisciplinary collaboration between otolaryngology, cardiology, and genetics.
    • Enables timely intervention and management for affected individuals.