J. Cohen et al., PRENATAL SONOGRAPHIC DIAGNOSIS OF TREACHER-COLLINS SYNDROME - A CASE AND REVIEW OF THE LITERATURE, American journal of perinatology, 12(6), 1995, pp. 416-419
We report the prenatal ultrasonographic diagnosis of a fetus with mand
ibulofacial dysostosis (Treacher Collins syndrome). Sonographic findin
gs included: polyhydramnios, microcephaly, abnormal fetal facial featu
res (slanting forehead, microphthalmos, micrognathia), and abnormal fe
tal swallowing. A review of the current literature pertaining to prena
tal diagnosis of this condition is presented.