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

[Sensorineural hearing loss in LEOPARD syndrome].

T Schrom1, A Habermann, H Scherer

  • 1Klinik für Hals-, Nasen-, Ohrenkrankheiten, Universitätsmedizin Berlin, Charité Campus Mitte, Berlin, Germany. thomas.schrom@gmx.de

HNO
|May 4, 2005
PubMed
Summary

LEOPARD syndrome, a rare condition with varied symptoms, can include skin, heart, and hearing issues. Early diagnosis of sensorineural hearing loss is crucial for rehabilitation.

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

[Real-life data of the IVI interval after switching to faricimab therapy].

Die Ophthalmologie·2026
Same author

Structure-activity relationships of actively FhuE transported rifabutin derivatives with potent activity against Acinetobacter baumannii.

European journal of medicinal chemistry·2023
Same author

The next generation of current measurement for ionization chambers.

Applied radiation and isotopes : including data, instrumentation and methods for use in agriculture, industry and medicine·2020
Same author

[Tonsil surgery in Brandenburg-trends between 2013 and 2017].

HNO·2019
Same author

Noise-optimized ultrastable low-noise current amplifier.

The Review of scientific instruments·2019
Same author

[Histology of adenoids].

HNO·2018

Area of Science:

  • Genetics and rare diseases
  • Cardiology
  • Ophthalmology
  • Audiology

Background:

  • LEOPARD syndrome is a rare genetic disorder characterized by multiple lentigines and various other malformations.
  • The syndrome exhibits significant variability in clinical presentation among affected individuals.

Observation:

  • A case report details a 20-year-old male with typical lentiginosis, growth retardation, and cardiac conduction abnormalities.
  • The patient also presented with ophthalmologic manifestations and sensorineural hearing loss.

Findings:

  • This case highlights the diverse manifestations of LEOPARD syndrome, including lentiginosis, cardiac issues, and hearing impairment.
  • Early identification of sensorineural hearing loss is essential for timely intervention and rehabilitation.

Implications:

  • Prompt diagnosis of LEOPARD syndrome facilitates management of associated conditions like cardiomyopathy, which carries a high mortality risk.
  • Understanding the syndrome's variability is key for comprehensive patient care and genetic counseling.

Related Experiment Videos