Cleidocranial dysplasia with hypermobile Ehlers-Danlos syndrome: A case report

Abstract

Cleidocranial dysplasia (CCD) is a rare genetic skeletal syndrome. The most common features are open fontanelles, hypertelorism, mid-face retrusion, hypoplasia, or aplasia of the clavicles leading to excessive shoulder mobility, dental abnormalities such as supernumerary, and impacted teeth. This case report describes a 31-year-old male with CCD with several unusual symptoms like generalized joint hypermobility, skin laxity, and smooth skin, which leads to set a diagnosis of hypermobile Ehlers-Danlos syndrome (hEDS). To our knowledge, this is the first case report in the literature that describes a patient with these 2 distinct syndromes CCD and hEDS.

Keywords

• Supernumerary teeth
• Joint hypermobility
• Skin laxity
• Open fontanelles
• Computed tomography