Milligan D A, Harlass F E, Duff P, Kopelman J N
Department of Obstetrics & Gynecology, Fitzsimons Army Medical Center, Aurora, CO 80045-5001.
Mil Med. 1994 Mar;159(3):250-2.
Treacher Collins' syndrome, or mandibulofacial dysostosis, is a rare, autosomal-dominant disorder. We describe the recurrence of this anomaly in the fetus of a patient who previously had delivered a severely affected infant. The ultrasonographic findings of hydramnios, absence of fetal swallowing movements, and poor growth of the biparietal diameter and head circumference permitted us to suggest the diagnosis antenatally of another affected child.