Clinical-radiological approach for the diagnosis of cleidocranial dysplasia in adults: A familial cases series

Abstract

Cleidocranial dysplasia is a rare disease with an autosomal-dominant inheritance that mainly affects the bones of the axial skeleton. In this report, we discuss the clinical and radiological signs of a case series comprising three sisters and the son of one of the sisters, all with suspected bone dysplasia.

Keywords: bone disease; cleidocranial dysplasia; orphan disease; rare disease.