Cleidocranial dysostosis
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Cleidocranial dysostosis (CCD) is a rare skeletal dysplasia with predominantly membranous bone involvement. It 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 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
RadiographPlain 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 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
-</ul><h4>Radiographic features</h4><h5>Radiograph</h5><h6>Skull</h6><ul>- +</ul><h4>Radiographic features</h4><h5>Plain radiograph</h5><h6>Skull</h6><ul>
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