Craniofacial characteristics in cri-du-chat syndrome

ObjectiveThe purpose of this study was to analyze craniofacial characteristics from lateral head profile radiographs of patients with cri-du-chat (CdC) syndrome.Study designThe craniofacial morphology of 10 CdC patients was evaluated using standard cephalometric methods, measuring 39 craniofacial variables on cephalometric x-ray images.ResultsThe principal characteristics were skeletal class II malocclusion, caused by mandibular retrognathism, dental biprotrusion, and a small upper airway. Additionally, 70% of patients had a steep palatal plane angle; the cranial base angle was flattened, also in 70% of patients.ConclusionsResults indicated that the deletion of 5p had an impact on the cranial base, maxilla, mandible, and upper airway, causing distinctive features to become apparent through irregular growth.