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

doi:10.1055/s-2007-994511

American Journal of Perinatology, Table of Contents

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

ORIGINAL ARTICLE

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

Abstract

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

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