Pavone L, Mollica F, Pero G, Tigano G, Giancarlo H, Mattucci K, Setzen M
Ophthalmic Paediatr Genet. 1986 Aug;7(2):115-9. doi: 10.3109/13816818609076119.
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.
纳杰尔肢端面部发育不全是一种鲜为人知的遗传性综合征,其中下颌面部发育不全的表现与肢体缺陷相关。本病例还显示出其他异常,包括斯蒂林 - 特克 - 杜安综合征、传导性耳聋和横结肠下垂。