“Candy shaped vertebrae” as a form of presentation of spinal deformities in a patient with Cleidocranial syndrome

Abstract

Cleidocranial Dysplasia (CCD) or Cleidocranial dysostosis is a very rare, under-diagnosed pathology caused by a variable degree of expression of a dominant gene. It is characterized by skeletal malformations, which can be expressed in different clinical and imagenologic findings, with a classic triad; late closure of cranial sutures, hypoplasia or aplasia of clavicles and dental abnormalities. We present a case of a 46 years old male, with no previous medical history, who presented to emergency department with a 4-month dorso-lumbar axial pain with no other symptoms. Imaging studies and clinical findings revealed characteristics compatible with CCD, with an unusual malformation of the vertebral bodies “candy shaped vertebrae”.

Keywords

• Cleidocranial Dysplasia
• Cleidocranial Dysostosis
• Skeletal malformations
• Vertebrae malformations
• Candy shaped vertebrae