Ultrasonographic Prenatal Diagnosis of Treacher Collins Syndrome : A Case Report

PORNPIMOL RUANGVUTILERT, MD, PhD*, ANUWAT SUTANTA WIBUL, MD*, PRASERT SUNSANEEVITHA Y AKUL, MD*, CHANIN LIMWONGSE, MD**

Affiliation : * Division of Maternal Fetal Medicine, Department of Obstetrics and Gynaecology, ** Division of Medical Genetics, Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand.

AbstractA case of Treacher Collins syndrome (TCS) diagnosed prenatally using ultrasonography is reported. The pregnant woman was gravida 2, para 0. Her husband had stigmata of the syndrome. Ultrasonography revealed polyhydramnios, abnormal fetal ears and marked micrognathia. Abortion occurred spontaneously at 26 weeks of gestation. The abortus bore clinical features of the syndrome.

Keywords : Treacher Collins Syndrome, Mandibulofacial Dysostosis, Prenatal Diagnosis

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