Acrofacial dysostosis syndromes: a relevant prenatal dilemma. A case report and brief literature review.
The acrofacial dysostosis (AFD) syndromes are an heterogeneous group of disorders with undefined classification and inheritance. We report the sonographic and clinical features of an AFD fetus with predominantly pre-axial forms. We made a prenatal diagnosis of Nager syndrome but postnatal examination showed post-axial defects previously undetectable by ultrasound.
Department of Gynecology, Obstetrics and Neonatology, Parma University, Italy. carla.verrotti@libero.it
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Verrotti
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Benassi
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Piantelli
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Magnani
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Giordano
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Gramellini
D000328:Adult; D000649:Amniocentesis; D004480:Ectromelia / Q000150:complications / Q000175:diagnosis; D005260:Female; D006801:Humans; D007621:Karyotyping; D017880:Limb Deformities, Congenital / Q000175:diagnosis* / Q000000981:diagnostic imaging; D008297:Male; D008342:Mandibulofacial Dysostosis / Q000175:diagnosis* / Q000000981:diagnostic imaging; D008844:Micrognathism / Q000150:complications / Q000175:diagnosis; D011247:Pregnancy; D013577:Syndrome; D016216:Ultrasonography, Prenatal