Chondroectodermal dysplasia is a hereditary condition. A physical exam and X-rays are used to diagnose chondroectodermal dysplasia and monitor associated symptoms, like knock-knee. Up to 50 percent of ...
In this study, we sought to (1) assess for cutaneous features including PPK and tightly curled/kinky hair among patients with autosomal dominant ACM caused by DSP variants, (2) relate cutaneous ...