Severe postaxial acrofacial dysostosis: an anatomic and angiographic study.
We describe a severe case of postaxial acrofacial dysostosis syndrome [POADS] or Genée-Wiedemann syndrome in a stillborn female. The report includes an arteriographic and anatomic study of the limbs. Previously unreported findings such as hypoplasia of the femora, ossification defect of the ischium and pubis, bilobed tongue, and lung hypoplasia were noted. This case documents further variability in the POADS or Genée-Wiedemann syndrome.
Rodríguez
J I
JI
Department of Pathology, La Paz Hospital, Madrid, Spain.
Palacios
J
J
D000792:Angiography; D002972:Cleft Palate; D005121:Extremities / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital; D008342:Mandibulofacial Dysostosis / Q000175:diagnosis*; D008844:Micrognathism