Cleidocranial dysostosis
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Cleidocranial dysostosis (CCD) is a skeletal dysplasia with predominant membranous bone involvement. It carries an autosomal dominant inheritance 4.
Pathology
It is characterised by incomplete ossification of skeletal structures inclusive of the clavicle as well as defective development of the pubic bones, vertebral column, and long bones 5.
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
Skull
- wormian bones
- widened sutures / fontanelles
- premature fusion of the coronal suture (brachycephaly)
- frontal / parietal bossing
- basilar invagination (atlanto axial impaction)
- persistent metopic suture
Chest
- hypoplasia / aplasia of lateral clavicle (absent clavicles): may have two separate hypoplastic segments 5
- supernumerary ribs
- hemivertebrae with spondylosis
- small and high scapulae
Pelvis
- hypoplasia of iliac bones
- absent / delayed ossification of the pubic bone (pseudo widening of the symphysis pubis)
Limbs
- short / absent fibula
- short / absent radius
- coxa vara
- hypoplastic terminal phalanges
-<p><strong>Cleidocranial dysostosis (CCD)</strong> is a <a href="/articles/skeletal-dysplasia">skeletal dysplasia </a>with predominant membranous bone involvement. It carries an autosomal dominant inheritance <sup>4</sup>.</p><h4>Pathology</h4><p>It is characterised by incomplete ossification of skeletal structures inclusive of the clavicle as well as defective development of the pubic bones, vertebral column, and long bones <sup>5</sup>.</p><h4><strong>Clinical features</strong></h4><ul>- +<p><strong>Cleidocranial dysostosis (CCD)</strong> is a <a href="/articles/skeletal-dysplasia">skeletal dysplasia </a>with predominant membranous bone involvement. It carries an autosomal dominant inheritance <sup>4</sup>.</p><h4>Pathology</h4><p>It is characterised by incomplete ossification of skeletal structures inclusive of the clavicle as well as defective development of the pubic bones, vertebral column, and long bones <sup>5</sup>.</p><h4>Clinical features</h4><ul>
-</ul><h4><strong>Radiographic features</strong></h4><h5>Plain film</h5><h6>Skull</h6><ul>- +</ul><h4>Radiographic features</h4><h5>Plain film</h5><h6>Skull</h6><ul>
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Image 3 X-ray (Frontal) ( update )
Caption
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Case 3: adult
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