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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 
      • AP hands  
        • short middle phalanges 
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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(OBQ07.241) A heterozygous loss of function mutation in which of the following genes would result in cleidocranial dysplasia? Review Topic

QID: 902
1

BMP-2

2%

(16/670)

2

cAMP

4%

(26/670)

3

c-fos

10%

(70/670)

4

SOX-9

24%

(161/670)

5

RUNX2

59%

(393/670)

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PREFERRED RESPONSE 5

(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? Review Topic

QID: 991
FIGURES:
1

Cleidocranial dysplasia

93%

(1641/1758)

2

Renal osteodystrophy

2%

(29/1758)

3

Spondyloepiphyseal dysplasia tarda

4%

(68/1758)

4

Hypothyroidism

0%

(8/1758)

5

Bilateral slipped capital femoral epiphyses

0%

(3/1758)

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PREFERRED RESPONSE 1
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