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Related Experiment Videos

Velocardiofacial syndrome.

R J Shprintzen1

  • 1Center for the Diagnosis, Treatment, and Study of Velo-Cardio-Facial Syndrome, Department of Otolaryngology and Communication Science, Upstate Medical University, Syracuse, New York, USA.

Otolaryngologic Clinics of North America
|July 14, 2001
PubMed
Summary
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Velocardiofacial syndrome (VCFS) is a common genetic disorder with numerous otolaryngologic issues affecting speech and hearing. Early recognition by pediatric otolaryngologists is crucial due to subtle physical features, especially in infants.

Area of Science:

  • Genetics and Human Syndromes
  • Pediatric Otolaryngology
  • Developmental Biology

Background:

  • Velocardiofacial syndrome (VCFS) is a frequent multiple-anomaly syndrome.
  • VCFS presents with significant otolaryngologic manifestations, impacting speech, language, hearing, immunity, and airways.
  • The subtle physical presentation of VCFS complicates early diagnosis, particularly in infants.

Purpose of the Study:

  • To highlight the prevalence of VCFS in pediatric otolaryngology practices.
  • To emphasize the importance of recognizing VCFS's diverse symptoms.
  • To inform otolaryngologists about the critical need for familiarity with VCFS.

Main Methods:

  • Literature review on VCFS prevalence and manifestations.
  • Clinical case analysis focusing on otolaryngologic presentations.

Related Experiment Videos

  • Synthesis of current knowledge on VCFS diagnosis and management.

    • Main Results:

    • VCFS is a leading genetic disorder encountered by pediatric otolaryngologists.
    • Otolaryngologic symptoms are nearly universal in individuals with VCFS.
    • Diagnostic challenges arise from the normal appearance of affected individuals.

    Conclusions:

    • Pediatric otolaryngologists must be well-versed in the VCFS symptom complex.
    • Early identification of VCFS is essential for appropriate patient care.
    • Understanding VCFS facilitates management of its complex manifestations.