Atypical postaxial acrofacial dysostosis (AFD): diabetic embryopathy or a new AFD syndrome?
We report on a Brazilian girl, born to a diabetic mother, and presenting with atypical pre/postaxial acrofacial dysostosis, nosologically related to the Genée-Wiedemann syndrome. Clinical and genetic aspects of this acrofacial dysostosis and its relationship to diabetic embryopathy are discussed.
Richieri-Costa
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Laboratório de Genética Humana, Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais, USP, Bauru, Brazil.
Guion-Almeida
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ML
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000328:Adult; D002675:Child, Preschool; D005260:Female; D005532:Foot Deformities, Congenital / Q000175:diagnosis / Q000235:genetics; D006228:Hand Deformities, Congenital / Q000235:genetics; D006801:Humans; D008342:Mandibulofacial Dysostosis / Q000175:diagnosis* / Q000235:genetics; D011247:Pregnancy; D011254:Pregnancy in Diabetics