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  • Title: Progressive development of sonographic features in prenatal diagnosis of Apert syndrome--case report and literature review.
    Author: Respondek-Liberska M, Smigiel R, Zielinski A, Sasiadek MM.
    Journal: Ginekol Pol; 2010 Dec; 81(12):935-9. PubMed ID: 21391441.
    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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