Cleidocranial dysostosis
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
- multiple wormian bones
- widened sagittal sutures and/or fontanelles
- premature fusion of the coronal suture (brachycephaly)
- frontal and/or parietal bossing
- basilar invagination (atlantoaxial impaction)
- persistent metopic suture
- supernumerary or abnormal teeth
- abnormal ear structures with hearing loss6
Chest
- hypoplasia/aplasia of the 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
(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>