Cleidocranial dysostosis

Changed by Bruno Di Muzio, 11 Aug 2016

Updates to Article Attributes

Body was changed:

Cleidocranial dysostosis (CCD) is, also known as cleidocranial dysplasia, is a rare skeletal dysplasiawith with predominantly membranous bone involvement. It, which carries an autosomal dominant inheritance 4.

Pathology

It is rare polyostotic skeletal dysplasia caused by a mutation in CBFA1 gene in AD inherited or sporadic mutation pattern (in approximately 40%) which is characterised by incomplete intramembranous ossification of midline skeletal structures inclusive of the clavicle as well as a defective development of the pubic bones, vertebral column, and long bones 5.

Clinical features

  • large head, with large fontanelles 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 radiograph
Skull
Chest
Pelvis
  • hypoplasia of iliac bones
  • absent/delayed ossification of the pubic bone (pseudocreating the appearance of a pseudo-widening of the symphysis pubis)
Limbs
  • -<p><strong>Cleidocranial dysostosis (CCD)</strong> is a rare <a href="/articles/skeletal-dysplasia">skeletal dysplasia </a>with predominantly membranous bone involvement. It carries an autosomal dominant inheritance <sup>4</sup>.</p><h4>Pathology</h4><p>It is rare polyostotic skeletal dysplasia caused by a mutation in CBFA1 gene in AD inherited or sporadic mutation pattern (in approximately 40%) which is characterised by incomplete intramembranous ossification of midline 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>
  • +<p><strong>Cleidocranial dysostosis (CCD)</strong>, also known as <strong>cleidocranial dysplasia</strong>, is a rare <a href="/articles/skeletal-dysplasia">skeletal dysplasia</a> with predominantly membranous bone involvement, which carries an autosomal dominant inheritance <sup>4</sup>.</p><h4>Pathology</h4><p>It is rare polyostotic skeletal dysplasia caused by a mutation in CBFA1 gene in AD inherited or sporadic mutation pattern (in approximately 40%) which is characterised by incomplete intramembranous ossification of midline skeletal structures inclusive of the clavicle as well as a defective development of the pubic bones, vertebral column, and long bones <sup>5</sup>.</p><h4>Clinical features</h4><ul>
  • -<li>abnormal ear structures with hearing loss<sup>6</sup>
  • +<li>abnormal ear structures with hearing loss <sup>6</sup>
  • -<li>hypoplasia/aplasia of lateral clavicle (<a href="/cases/absent-clavicles">absent clavicles</a>): may have two separate hypoplastic segments <sup>5</sup>
  • +<li>hypoplasia/aplasia of the lateral clavicle (<a href="/cases/absent-clavicles">absent clavicles</a>): may have two separate hypoplastic segments <sup>5</sup>
  • -<li>absent/delayed ossification of the pubic bone (pseudo-widening of the symphysis pubis)</li>
  • +<li>absent/delayed ossification of the pubic bone creating the appearance of a pseudo-widening of the symphysis pubis</li>

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