Craniofacial Morphology in Treacher Collins Syndrome

Abstract

Treacher Collins syndrome is a rare but well studied autosomal dominant craniofacial malformation syndrome. Most reports to date have focused on the facial morphology of this distinctive syndrome, but several more recent investigations have described abnormalities of the basicranium, mandible, and upper airway. The purpose of this report is to describe craniofacial morphology in a sample population of 12 patients with Treacher Collins syndrome. A special emphasis is placed on cranial base and mandibular structure because of the airway problems often encountered in this syndrome.