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Am J Perinatol 1995; 12(6): 416-419
DOI: 10.1055/s-2007-994511
ORIGINAL ARTICLE

© 1995 by Thieme Medical Publishers, Inc.

Prenatal Sonographic Diagnosis of Treacher Collins Syndrome: A Case and Review of the Literature

Jose Cohen, Fabio Ghezzi, Luis Gonçalves, José D. Fuentes, Kristin J. Paulyson, David M. Sherer
  • Perinatology Research Facility, Divisions of Maternal-Fetal Medicine, Departments of Obstetrics and Gynecology, Hutzel Hospital, Detroit, Michigan; and Georgetown University Medical Center, Washington, DC
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Publication Date:
04 March 2008 (online)

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ABSTRACT

We report the prenatal ultrasonographic diagnosis of a fetus with mandibulofacial dysostosis (Treacher Collins syndrome). Sonographic findings included: polyhydramnios, microcephaly, abnormal fetal facial features (slanting forehead, microphthalmos, micrognathia), and abnormal fetal swallowing. A review of the current literature pertaining to prenatal diagnosis of this condition is presented.

Keywords

Mandibulofacial dysostosis - Treacher Collins syndrome - prenatal diagnosis - ultrasonography