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Vol 81, No 12 (2010)
ARTICLES
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Progressive development of sonographic features in prenatal diagnosis of Apert syndrome – case report and literature review

Maria Respondek-Liberska, Robert Smigiel, Andrzej Zieliński, Maria Małgorzata Sąsiadek
Ginekol Pol 2010;81(12).

open access

Vol 81, No 12 (2010)
ARTICLES

Abstract

Abstract Apert syndrome is characterized by craniosynostosis, midfacial malformations and symmetrical syndactyly of the hands and feet. We report a case of prenatal sonographic diagnosis of Apert syndrome. Mild ventriculomegaly with normal head shape observed at 22 weeks gestation, followed by colpocephaly at 25 weeks gestation and bilateral syndactyly and subsequent craniosynostosis at 28 weeks, led to the prenatal diagnosis of Apert syndrome. The diagnosis was confirmed by physical examination and molecular study after birth. Additionally, the authors present the review of literature on prenatal sonographic diagnosis of Apert syndrome.

Abstract

Abstract Apert syndrome is characterized by craniosynostosis, midfacial malformations and symmetrical syndactyly of the hands and feet. We report a case of prenatal sonographic diagnosis of Apert syndrome. Mild ventriculomegaly with normal head shape observed at 22 weeks gestation, followed by colpocephaly at 25 weeks gestation and bilateral syndactyly and subsequent craniosynostosis at 28 weeks, led to the prenatal diagnosis of Apert syndrome. The diagnosis was confirmed by physical examination and molecular study after birth. Additionally, the authors present the review of literature on prenatal sonographic diagnosis of Apert syndrome.
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Keywords

Apert syndrome, prenatal diagnosis, ultrasonography, echocardiography, ventriculomegaly, craniosynostosis, symmetrial syndactyly, FGFR2 gene mutation

About this article
Title

Progressive development of sonographic features in prenatal diagnosis of Apert syndrome – case report and literature review

Journal

Ginekologia Polska

Issue

Vol 81, No 12 (2010)

Bibliographic record

Ginekol Pol 2010;81(12).

Keywords

Apert syndrome
prenatal diagnosis
ultrasonography
echocardiography
ventriculomegaly
craniosynostosis
symmetrial syndactyly
FGFR2 gene mutation

Authors

Maria Respondek-Liberska
Robert Smigiel
Andrzej Zieliński
Maria Małgorzata Sąsiadek

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