Respondek-Liberska Maria, Smigiel Robert, Zielinski Andrzej, Sasiadek Maria Malgorzata
Department for Fetal Congenital Malformations Diagnoses and Prevention, Medical University of Lodz, Poland.
Ginekol Pol. 2010 Dec;81(12):935-9.
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.
Apert综合征的特征为颅缝早闭、面中部畸形以及手足对称性并指（趾）畸形。我们报告1例Apert综合征的产前超声诊断病例。妊娠22周时观察到轻度脑室扩大但头部形状正常，妊娠25周时出现枕部脑膨出，妊娠28周时出现双侧并指（趾）畸形及随后的颅缝早闭，从而作出Apert综合征的产前诊断。出生后经体格检查和分子学研究确诊。此外，作者还介绍了关于Apert综合征产前超声诊断的文献综述。
