Cleidocranial dysplasia – A case report discussing the clinical and radiological manifestations

Abstract

Cleidocranial dysplasia (CCD) is a generalized skeletal disorder characterized by typical clinical and radiological abnormalities which include open cranial sutures and fontanelle, presence of Wormian bones, characteristic abnormalities of the clavicle and pelvic bones, and dentition. We report a teenage boy who presented for the evaluation of short stature. He was detected to have CCD based on his clinical examination and radiographic findings. An early diagnosis and treatment directed at correcting the dental and orthopedic abnormalities are imperative to obtain an optimal cosmetic and functional outcome in these patients.

Keywords

• cleidocranial dysplasia
• runx2
• chromosome 6p21
• generalised skeletal dysplasia