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Diagnostic journey for individuals with fibrous dysplasia / McCune albright syndrome (FD/MAS).

Kaiyang SongRoshi ShresthaHeather DelaneyRohit VijjhalwarAlison TurnerMaria SanchezMuhammad Kassim Javaid
Published in: Orphanet journal of rare diseases (2024)
Individuals with FDMAS have a variable time to diagnosis that can span decades. This study highlights the need for further research on how to improve diagnostic pathways within Orthopaedic and Ear, Nose and Throat (ENT)/Maxillofacial services. Our data provides a baseline to assess the impact of novel NHS diagnostic networks on reducing the diagnostic odyssey.
Keyphrases
  • healthcare
  • primary care
  • case report
  • artificial intelligence