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Skeletal abnormalities in the Apert syndrome

M M Cohen1, S Kreiborg

  • 1Department of Oral Biology, Faculty of Dentistry, Dalhousie University, Halifax, Nova Scotia, Canada.

American Journal of Medical Genetics
|October 1, 1993
PubMed
Summary

Apert syndrome causes significant skeletal abnormalities, particularly affecting the shoulders and elbows. These progressive limitations in joint mobility impact patients

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Area of Science:

  • Orthopedics
  • Genetics
  • Pediatric Medicine

Background:

  • Apert syndrome is a rare genetic disorder characterized by craniosynostosis and syndactyly.
  • Skeletal abnormalities beyond the skull and hands are less comprehensively documented.
  • Understanding appendicular skeleton involvement is crucial for managing functional deficits.

Purpose of the Study:

  • To detail the spectrum of skeletal abnormalities in the appendicular skeleton of Apert syndrome patients.
  • To analyze the progression of these abnormalities with patient growth.
  • To investigate the underlying pathophysiology, suggesting multiple epiphyseal dysplasia.

Main Methods:

  • Retrospective analysis of skeletal abnormalities in 38 Apert syndrome patients.
  • Clinical examination focusing on shoulder, elbow, hip, knee, rib cage, and spine.
  • Radiographic assessment of bone morphology and ossification patterns.

Main Results:

  • Consistent findings include limited shoulder mobility (glenohumeral joint) with progressive loss of motion.
  • Shoulder girdle abnormalities include prominent acromioclavicular joints and scapular winging.
  • Elbow mobility limitations were common but less progressive than shoulder issues; short humeri and mild genua valga were frequent.

Conclusions:

  • Apert syndrome is associated with widespread skeletal abnormalities, particularly in the shoulder and elbow joints.
  • Radiographic findings support a diagnosis of multiple epiphyseal dysplasia.
  • These abnormalities lead to significant, progressive joint mobility limitations, impacting function.

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