Syndromes of the First and Second Branchial Arches, Part 2: Syndromes

A 5-year-old boy with ACS. A−C, 3D bony reconstructions show an absent condylar processes, asymmetric micrognathia, and hypoplastic condyles. D, Axial CT scan shows bilateral abnormal TMJs (arrows) with dysplastic condylar processes.

An 18-year-old man with ACS. A, 3D bony reconstruction shows micrognathia with overprotrusion of the mandible in relation to the maxilla. The lateral mandibular cleft is a feature commonly seen in ACS (see also Fig 2). B, Axial CT scan also shows the asymmetry of the dysplastic protruding mandible.

A 4-year-old girl with TCS. A−C, 3D bone reconstructions show bilateral and asymmetric abnormalities of the mandibular condyle and coronoid process as well as maxillary hypoplasia and micrognathia. The EACs are absent bilaterally. D, Axial CT image shows bilateral hypoplastic zygomatic arches, maxillary bone dysplasia, and temporal bone abnormalities.

A 47-year-old woman with Stickler syndrome. A−C, 3D bony reconstructions show a flat midface with a depressed nasal bridge, short nose, anteverted nares, and zygomatic hypoplasia. Reconstructive and cosmetic hardware and implants are present. D, Axial CT scan shows incomplete fusion of the palatal bones with a posterior submucosal cleft (arrow).

A 6-year-old boy with Stickler syndrome. 3D bony reconstructions show the characteristic flat midface with a depressed nasal bridge. The degree of zygomatic hypoplasia is more subtle. There is mild micrognathia. An endotracheal tube is present. Courtesy of Michael Cunningham.