Musculoskeletal ImagingMandibulofacial dysostosis
a type of
craniosynostosis inherited as an autosomal dominant condition. This disease is also known as
Treacher Collins syndrome. In mandibulofacial dysostosis, patients have an antimongoloid slant to the eyes, flat cheekbones, small mandible, dysplastic ears, and coloboma. On radiographs, marked hypoplasia of the zygomatic arches, maxilla and
paranasal sinuses may be seen. Other features include egg-shaped orbits, hypoplastic and malformed mandible, and occasionally, vertebral anomalies and malformations in the
extremities.
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