Table 8b.

Recommended Surveillance for Individuals with an Autosomal Dominant TRPV4 Skeletal Dysplasia

System/ConcernEvaluationFrequency
Musculoskeletal Assessment for development of joint pain & scoliosisAnnually
Cervical spinal films to assess for clinically significant odontoid hypoplasiaBefore:
  • A child reaches school age;
  • Surgical procedures involving general anesthesia.
SNHL Hearing assessmentAnnually

SNHL = sensorineural hearing loss

From: Autosomal Dominant TRPV4 Disorders

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.