Cleidocranial dysplasia presenting with facial nerve palsy

Document Type





A 24 years old unmarried lady presented with generalized weaknesses. Recurrent episodes of similar neurological history was presented in mother and 3 more siblings. Reversible facial palsy. On examination she had short stature, frontal and parietal bossing, a small lowers half of face and was able to cross her arms completely across the chest. There was normal intelligence and no history of facial palsy at that time. The clinician suspected an agenesis of clavicles with some syndrome and referred to the to Radiology Dept. X-ray skull AP and lateral views, x-ray chest PA view, x-ray dorsal spine x-rays both hands and x-ray pelvis AP views were carried out. The skull x-ray showed frontal bossing, widely open sutures, wormian bones, persistent metopic suture, cephalofacial disproportion with small face and large vault, hypoplastic mandible and supernumerary teeth. X-ray chest showed a narrow bell shaped thorax with slanting ribs and bilaterally absent clavicles with elevated scapulae. The x-rays of hands and spines were unremarkable. The pelvis showed pubic diastasis, hypoplasia of right iliac bone and bilateral coxa vara. The bone density was normal through cell. The lady was labeled as a case of Cleidocranial dysplasia and was advised to have MN to rule out facial nerve lesion. It was unremarkable. The laboratory findings of the lady were also normal. The parents and other siblings were also examined clinically. Only the mother could completely take her arms across the chest. Her x-rays of skull and thorax displayed Wormian bones, metopic sutures, and supernumerary teeth, absent clavicles and cleft cervical and upper dorsal vertebrae. Neither the father nor other siblings showed any clinical or radiological abnormality. The Neurology Department provided genetic counseling to the family and patient.

Publication (Name of Journal)

Pakistan Journal of Radiology