Diagnosis of Cleidocranial Dysplasia in Routine Chest Radiograph
On a routine presurgical chest radiograph, a bilateral absence of the clavicles was noticed (Figure 1). The subsequent clinical observation revealed a hypermobility of the shoulder girdle, and the patient pointed out that ever since he was a child, he “could slip through the narrowest fences.” Literature research on bilateral clavicular aplasia suggested that it might be a case of cleidocranial dysplasia, which is an autosomal-dominant inherited condition. A dysregulation of osteoblast differentiation leads to skeletal malformations such as hypoplasia or aplasia of the clavicles, along with perturbed ossification of the fontanelles and sutures. The latter was also identified in our patient after a radiograph of the skull was performed, which confirmed our diagnosis (Figure 2). Although rare, a first description of cleidocranial dysplasia is believed to be found in Homer’s Iliad in a character named Thersites, who had rounded shoulders stooping together over his chest, just as was seen in our case (Figure 3).