Acrofacial dysostosis of unknown type: nosology of the acrofacial dysostoses.
We describe a stillborn girl with an unclassified form of mandibulofacial dysostosis, a postaxial defect of the right, and a preaxial defect of the left hand. The Nager syndrome is characterized by preaxial limb defects, whereas the Genée-Wiedemann syndrome (= Miller syndrome) by postaxial limb defects. We briefly review the established acrofacial dysostoses (AFD) and discuss the position of our case in the current classification.
Preis
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Department of Pediatrics, University of Düsseldorf, Germany.
Raymaekers-Buntinx
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Majewski
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F
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D001132:Arm / Q000002:abnormalities / Q000000981:diagnostic imaging; D005145:Face / Q000002:abnormalities / Q000000981:diagnostic imaging; D005260:Female; D005313:Fetal Death / Q000209:etiology; D005799:Genes, Dominant; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics; D006801:Humans; D008342:Mandibulofacial Dysostosis / Q000145:classification* / Q000235:genetics / Q000473:pathology; D011859:Radiography