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:...

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Bibliographic Details
Published inJournal de gynécologie, obstétrique et biologie de la reproduction Vol. 24; no. 6; p. 613
Main Authors Delinière, F, Lepinard, C, Kerjean, F, Wartanian, R, Rabourdin-Bleytou, S, Grosieux, P
Format Journal Article
LanguageFrench
Published France 1995
Subjects
Abortion, Therapeutic
Acrocephalosyndactylia - diagnostic imaging
Acrocephalosyndactylia - genetics
Acrocephalosyndactylia - pathology
Acrocephalosyndactylia - therapy
Female
Genes, Dominant
Humans
Pregnancy
Ultrasonography, Prenatal
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Summary: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.
ISSN:0368-2315