The surgical treatment of mandibulofacial dysostosis (Berry syndrome; Treacher Collins syndrome; Franceschetti-Zwahlen-Klein syndrome).
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This article describes the dental skeletal and aesthetic features that characterize Mandibulo-facial dysostosis and Hemifacial microsomia. Each patient has been studied with three different cephalometric analysis in the laterolateral projection. The data are fully reported and discussed. Particular emphasis is put on the differences and correlations between the two syndromes from the point of view both of morphology and physiopathology.
Treacher Collins syndrome is a complex congenital malformation. The most important manifestations of this syndrome are hypoplastic or absent malar bone, centrofacial over-projection, eyelid coloboma, and micrognathia. This article presents an approach to re-establish the right centrofacial proportions through "flattening osteotomies" of the maxilla, malar bone reconstruction, and other maxillo-mandibular osteotomies.
Four fetuses at risk of the autosomal dominant Treacher-Collins syndrome were examined by fetoscopy in the second trimester of pregnancy. Findings were normal in two cases and healthy babies were delivered after uneventful pregnancies. Mandibular hypoplasia and abnormalities of the palpebra and auricles were seen in the other two fetuses; one had an associated cleft palate. These pregnancies were terminated and the diagnoses confirmed by post-mortem examination.
Six patients of two families with clinically suspected and genetically proven Treacher Collins syndrome and hearing loss were studied by CT of the temporal bone. The objective of this study was to detect the abnormalities and to show the variation of expression of abnormalities. We found a high incidence of asymmetry in the different ear malformations and a slightly lower incidence of some other classical features, probably due to our patient selection.