Lowry R B
Birth Defects Orig Artic Ser. 1977;13(3C):195-202.
A 10-year-old girl with the Nagar acrofacial dysostosis syndrome and normal intelligence is presented. Severe conductive hearing loss remains the major handicap. It is suggested that her syndrome is due to a dominant gene mutation.
本文报告了一名患有纳加尔肢端面部发育不全综合征且智力正常的10岁女孩。严重的传导性听力损失仍然是主要的障碍。提示她的综合征是由显性基因突变引起的。