Case Discussion... Presentation: CXR taken for left sided chest pain. Case Discussion: Virtually absent clavicles in a patient with cleidocranial dysostosis. No cause for left sided chest pain is seen. Cleidocranial dysostosis (CCD) is a skeletal dysplasia with predominant membranous bone involvement. It carries an autosomal dominant inheritance. Pathology: It is characterised by incomplete ossification of sketeal 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 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 supranumerary 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 hypoplasic terminal phalanges
