[Apert syndrome. Ultrasonic diagnosis, obstetrical management].
We report two observations of antenatal diagnosis of Apert syndrome. This uncommon genetic disorder suggest an autosomal dominant inheritance, but almost all cases described are sporadic; the responsible gene is yet not located. Ultrasonographic detection is difficult, based on the following signs: brachycephalic skull (unusually detected), flat facial profile with a nasal bridge depression, tall appearance of the forehead (inconstant), total bilateral and symmetrical syndactylies of the hands and feet. At last we present our arguments for medical abortion, when this disorder is detected.
Delinière
F
F
Clinique Obstétricale et Gynécologique, CHU, Angers.
Lepinard
C
C
Kerjean
F
F
Wartanian
R
R
Rabourdin-Bleytou
S
S
Grosieux
P
P
D000032:Abortion, Therapeutic; D000168:Acrocephalosyndactylia / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology / Q000628:therapy*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D011247:Pregnancy; D016216:Ultrasonography, Prenatal