Acrofacial dysostosis of Nager and ocular abnormalities.
Acrofacial dysostosis of Nager is a little known hereditary syndrome in which the findings of mandibulofacial dysostosis are associated with defects of the limbs. The present case showed other abnormalities including the Stilling-Turk-Duane syndrome, conductive deafness and ptosis of the transverse colon.
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D003106:Colon / Q000002:abnormalities; D005124:Eye Abnormalities; D005260:Female; D006228:Hand Deformities, Congenital; D006314:Hearing Loss, Conductive / Q000235:genetics; D006801:Humans; D008342:Mandibulofacial Dysostosis / Q000235:genetics*; D013577:Syndrome