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Cleidocranial Dysplasia (Dysostosis)

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Topic updated on 02/09/14 5:44pm
Introduction
  • Skeletal dysplasia affecting bones formed by intramembranous ossification.
  • Epidemiology
    • approximately 1 in 1,000,000 affected
  • Pathophysiology  
    • caused by defect in intramembranous ossification
      • leads to failure of formation of midline structures  
        • characteristic feature is hypoplastic or absent clavicles
  • Genetics
    • autosomal dominant 
    • RUNX2/CBFA1 mutation 
      • transcription factor which regulates osteoblastic differentiation
  • Orthopaedic manifestations
    • proportionate dwarfism 
    • clavicle dysplasia/aplasia
    • wormian bones
    • frontal bossing 
    • delayed fontanelle ossification 
      • due to delay in closure of skull sutures
    • coxa vara
    • shortened middle phalanges of 3-5 fingers
    • delayed ossification of pubis
    • dental abnormalities
      • delayed eruption of permanent teeth 
Presentation
  • Symptoms
    • usually asymptomatic
  • Physical exam q
    • hypermobility of the shoulders
    • frontal bossing
    • hand deformities
      • examine middle phalanges for shortening 
    • delayed formation of permanent teeth
    • abnormal range of motion at hips 
      • if severe coxa vara may be present

Imaging
  • Radiographs
    • recommended
      • AP chest
        • to identify clavicular dysmorphism 
      • lateral skull
        • look for delayed closure of sutures 
      • AP pelvis
        • look for coxa vara 
        • look for failure of pubis to ossify 
Treatment
  • Nonoperative
    • observation 
      • indications
        • clavicular hypoplasia
      • outcomes
        • most manifestations associated with this disease do not need intervention
  • Operative
    • intertrochanteric osteotomy
      • indications
        • coxa vara with a neck shaft angle of less than 100 degrees

 

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Qbank (2 Questions)

TAG
(OBQ07.241) A heterozygous loss of function mutation in which of the following genes would result in cleidocranial dysplasia? Topic Review Topic

1. BMP-2
2. cAMP
3. c-fos
4. SOX-9
5. RUNX2

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TAG
(OBQ05.105) An 8-year-old boy presents with extreme shoulder motion and frontal bossing. A chest radiograph and AP pelvis radiograph are shown. What is the most likely diagnosis? Topic Review Topic
FIGURES: A   B        

1. Cleidocranial dysplasia
2. Renal osteodystrophy
3. Spondyloepiphyseal dysplasia tarda
4. Hypothyroidism
5. Bilateral slipped capital femoral epiphyses

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