Table 7.

Osteoglophonic Dysplasia: Recommended Surveillance

System/ConcernEvaluationFrequency
Musculoskeletal
  • Assess for recurrent/pathologic fractures.
  • Monitor growth.
At each visit
Development Monitor developmental progress / educational needs.
Hydrocephalus
  • Closely monitor head circumference / head growth.
  • Evaluate for signs of ↑ intracranial pressure (e.g., headaches, vomiting).
  • Clinical eval at least every 3 mos in 1st year of life
  • Can be done in conjunction w/team visits to assess for craniosynostosis.
Ocular Assessment for incomplete eyelid closureAt each visit
Dental Issues Eval by craniofacial orthodontistWhen secondary teeth erupt
Sleep apnea Clinical eval for symptoms of sleep apneaAt each visit
PolysomnographyAs indicated by clinical symptoms
Hypophosphatemia Assessment of serum phosphate & serum FGF23Frequency per endocrinologist
Temperature instability Monitor body temperatureFollowing sedation for procedures

FGF23 = fibroblast growth factor 23

From: Osteoglophonic Dysplasia

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.