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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Prenatal diagnosis of mandibulofacial dysostosis.

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.[1]


  1. Prenatal diagnosis of mandibulofacial dysostosis. Nicolaides, K.H., Johansson, D., Donnai, D., Rodeck, C.H. Prenat. Diagn. (1984) [Pubmed]
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