Cleidocranial Dysplasia, Radiological Findings in a New-Born (a case report)

Abstract

Background: Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal disorder presenting with a variety of clinical and radiological features that can prove to be a diagnostic challenge. Case presentation: We report a case of CCD in a female new-born from a well-followed pregnancy, without prenatal ultrasound, presenting a too soft skull. The diagnosis was made with radiographs. There were no major complication and this presentation of CCD was compatible with life. Conclusion: The diagnosis of CCD is based on clinical and radiographic findings, confirmation is possible if molecular genetics test available.