Recurrence of Treacher Collins' syndrome with sonographic findings.
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.
Milligan
D A
DA
Department of Obstetrics & Gynecology, Fitzsimons Army Medical Center, Aurora, CO 80045-5001.
Harlass
F E
FE
Duff
P
P
Kopelman
J N
JN
D000328:Adult; D002508:Cephalometry; D005260:Female; D005317:Fetal Growth Retardation / Q000000981:diagnostic imaging / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008342:Mandibulofacial Dysostosis / Q000000981:diagnostic imaging* / Q000235:genetics; D006831:Polyhydramnios / Q000000981:diagnostic imaging*; D011247:Pregnancy; D016216:Ultrasonography, Prenatal