The skeletal anatomy of mandibulofacial dysostosis (Treacher Collins syndrome).
Three-dimensional osseous surface re-formation imaging from CT scans was used to examine the facial skeletons of 14 living patients with mandibulofacial dysostosis. Partial to complete aplasia of the zygomatic process of the temporal bone, mild hypoplasia to aplasia of the frontal process of the zygoma, antimongoloid slant of the transverse orbital axis, and hypoplasia of the medial pterygoid plates and muscles are common to all patients examined. Deformities of the zygoma, zygomatic process of the frontal bone, mandible, and lateral pterygoid plates and muscles vary from minimal to severe, including aplasia. The body of the zygoma is the least affected part of the bone. Right-left asymmetry characterizes these deformities in all patients. The most consistent skeletal aplasia (cleft) in mandibulofacial dysostosis involves the zygomatic process of the temporal bone rather than the zygoma itself.
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008342:Mandibulofacial Dysostosis / Q000000981:diagnostic imaging / Q000473:pathology*; D012886:Skull / Q000002:abnormalities*; D014057:Tomography, X-Ray Computed