[The antenatal diagnosis of Bonnevie-Ullrich's syndrome. The role of ultrasound (author's transl)].
The authors report four cases of Bonnevie-Ullrich's syndrome where the diagnosis was made by ultrasound. The typical picture is of a cystic retrocervical hygroma with generalised lymphoedema which is more marked in the lower limbs and on the backs of the hands and feet, together with ascites. This syndrome adds up to Turner's syndrome. The diagnosis was definite in one case because it was confirmed by amniocentesis with monosomy X caryotype. It is very likely that the three other cases were the same because the anatomo-pathological features of the external and internal genital organs showed that the baby was feminine. In two cases raised alpha-foetoprotein was found. The levels were 1000 micrograms/ml and 2100 micrograms/ml and the authors discuss the origin of the alpha-foetoprotein. It is advisable to terminate the pregnancies in these major forms of Turner's syndrome because they usually die in utero (in two cases) at different stages of the pregnancy.
D000032:Abortion, Therapeutic; D000293:Adolescent; D000328:Adult; D000653:Amniotic Fluid / Q000032:analysis; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D005260:Female; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012729:Sex Chromosome Aberrations / Q000175:diagnosis* / Q000235:genetics; D014463:Ultrasonography; D000509:alpha-Fetoproteins / Q000032:analysis
D000509:alpha-Fetoproteins
Le diagnostic anténatal du syndrome de Bonnevie-Ullrich. Apport de l'échographie.