Apert syndrome. Ultrasonic diagnosis, obstetrical management
Delinière, F.; Lepinard, C.; Kerjean, F.; Wartanian, R.; Rabourdin-Bleytou, S.; Grosieux, P.
Journal de Gynecologie Obstetrique et Biologie de la Reproduction 24(6): 613-617
1995
ISSN/ISBN: 0368-2315 PMID: 8830082 Document Number: 451686
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.