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Related Experiment Videos

Abnormal bone masses in Klippel-Feil syndrome.

P S Douglas1, K F Moos, W S Hislop

  • 1Oral and Maxillofacial Surgery Department, Canniesburn Hospital, Glasgow.

The British Journal of Oral & Maxillofacial Surgery
|December 1, 1992
PubMed
Summary

Klippel-Feil syndrome (KFS) can cause abnormal bony masses in the jaw. This study presents five female patients with this rare mandibular deformity, detailing their assessment and treatment.

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Area of Science:

  • Medical Genetics
  • Craniofacial Surgery
  • Pediatric Dentistry

Background:

  • Klippel-Feil syndrome (KFS) is a congenital disorder characterized by the fusion of cervical vertebrae.
  • Craniofacial abnormalities, including mandibular anomalies, can occur in KFS patients.
  • Previous literature has documented congenital duplication of mandibular rami in KFS.

Observation:

  • This case series details five female patients diagnosed with Klippel-Feil syndrome.
  • All patients presented with abnormal bony masses specifically in the mandibular ramus region.
  • The study includes comprehensive assessment and treatment strategies for these patients.

Findings:

  • The presented cases represent a series of patients with congenital duplication of mandibular rami associated with KFS.
  • This specific mandibular deformity in KFS patients is believed to be documented for the first time in this series.
  • Detailed clinical features, radiographic findings, and treatment outcomes are discussed.

Implications:

  • Highlights a previously underreported manifestation of Klippel-Feil syndrome.
  • Informs clinicians about potential rare craniofacial deformities in KFS.
  • Contributes to the understanding of KFS spectrum and management of associated mandibular anomalies.

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