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Prenatal diagnosis of mandibulofacial dysostosis
Author(s) -
Nicolaides K. H.,
Johansson D.,
Donnai D.,
Rodeck C. H.
Publication year - 1984
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970040307
Subject(s) - medicine , prenatal diagnosis , dysostosis , pediatrics , congenital disease , pregnancy , fetus , genetics , biology
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.