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Kniest's Dysplasia

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Topic updated on 11/10/12 10:48am
Introduction
  • Form of disproportionate short-trunk dwarfism
  • Genetics
    • autosomal dominant
    • defect leads to abnormal Type II collagen
  • Associated with
    • respiratory problems
    • cleft palate
    • retinal detachment and myopia
    • otitis media with hearing loss
  
Presentation
  • Syndrome features
    • disproportionate short-trunk dwarfism
    • joint stiffness / contractures
    • dumbell-shaped femora
    • hypoplastic pelvis and spine
    • scoliosis & kyphosis
    • cleft lip 
Imaging
  • Radiographs
    • osteopenia
    • dumbbell-shaped bone 
Treatment
  • Myopia
    • ophthalmologic consultation
  • Joint contractures
    • early physical therapy
  • Hip degenrative arthritis
    • joint reconstruction
References
  1. Review of Orthopaedics, 4th Edition, Mark D. Miller, W B Saunders Co, March 2004 
  2. Orthopaedic Knowledge Update 8: Home study syllabus, Edited by Alexander R. Vaccaro, MD 
  3. Miller Colorado Review Lecture Series , Mark D. Miller, Stryker, 2005 
  4. Handbook of Fractures, Joseph D. Zuckerman, Kenneth J. Koval 
  5. Surgical Exposures in Orthopaedics: The Anatomic Approach, Stanley Hoppenfeld, Piet DeBoer
  6. Netter's Concise Atlas of Orthopaedic Anatomy, Frank H. Netter, John A. Craig, Frank H. Netter, John A. Craig, ICOH
  7. Physical Examination of the Spine & Extremities. Stanley Hoppenfeld.Prentice Hall. Copyright 1976

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