Friday, January 16, 2015

X-Ray Of A Patient With Cleidocranial Dystosis

The X-Ray shown below is taken from a 50 year old female. Look for what is missing ??

Case Discussion:

Cleidocranial dysostosis

Cleidocranial dysostosis (CCD) is a skeletal dysplasia with predominant membranous bone involvement. It carries an autosomal dominant inheritance.


It is characterized by incomplete ossification of skeletal structures inclusive of the clavicle as well as defective development of the pubic bones, vertebral column, and long bones.

Clinical features

  • large head, with large fontenelles with delayed closure
  • broad mandible
  • supernumerary teeth
  • high arched palate
  • neonatal distress due to thorax being narrowed and bell shaped
  • excessively mobile shoulders
  • may have genu valgum and short fingers

Radiographic features

Plain film
  • wormian bones
  • widened sutures / fontanelles
  • premature fusion of the coronal suture (brachycephaly)
  • frontal / parietal bossing
  • basilar invagination (atlanto axial impaction)
  • persistant metopic suture
  • hypoplasia / aplasia of lateral clavicle (absent clavicles): may have two separate hypoplastic segments 5
  • supernumerary ribs
  • hemivertebrae with spondylosis
  • small and high scapulae
  • hypoplasia of illiac bones
  • absent / delayed ossification of the pubic bone (pseudo widening of the symphysis pubis)
  • short / absent fibula
  • short / absent radius
  • coxa vera
  • hypoplastic terminal phalanges

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