Table 4.

Recommended Evaluations Following Initial Diagnosis in Individuals with FLNB Disorders

System/ConcernEvaluationComment
Orthopedic Lateral cervical spine films in flexion & extension
  • To evaluate for cervical dysplasia, which can → cervical cord myelopathy
  • Evaluate cervical spine for instability prior to general anesthesia.
Spine filmsTo evaluate for vertebral abnormalities that predispose to scoliosis
Clinical & ultrasound assessment of hips for dislocationDevelopment of dislocations postnatally has not been described.
Clinical exam for joint dislocation, club foot
ENT Eval for cleft palate
Pulmonology Respiratory examFor evidence of laryngotracheobronchomalacia
Audiology Audiologic evalTo assess for sensorineural &/or conductive hearing loss
Ophthalmology Ophthalmologic examIn those w/SCT syndrome to evaluate for retinal anomalies
Dental Eval for enamel hypoplasia & need for sealants
Other Consultation w/clinical geneticist &/or genetic counselor

From: FLNB 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.