Pfeiffer syndrome with FGFR2 C342R mutation presenting extreme proptosis, craniosynostosis, hearing loss, ventriculomegaly, broad great toes and thumbs, maxillary hypoplasia, and laryngomalacia.
作者信息
Chen Chih-Ping, Lin Shuan-Pei, Liu Yu-Peng, Chern Schu-Rern, Chen Shin-Wen, Lai Shih-Ting, Wang Wayseen
机构信息
Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Biotechnology, Asia University, Taichung, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan.
Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Pediatrics, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medicine, MacKay Medical College, New Taipei City, Taiwan; Department of Early Childhood Care, National Taipei University of Nursing and Health Sciences, Taipei, Taiwan.
出版信息
Taiwan J Obstet Gynecol. 2017 Jun;56(3):412-414. doi: 10.1016/j.tjog.2017.04.030.
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