title: Pfeiffer syndrome with FGFR2 W290C mutation perinatally presenting extreme proptosis.
authors.affiliation: Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medicine, Mackay Medical College, New Taipei City, 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. Electronic address: cpc_mmh@yahoo.com.
authors.forename: Chih-Ping
authors.initials: CP
authors.lastname: Chen
authors.affiliation: Department of Obstetrics and Gynecology, Taiwan Adventist Hospital, Taipei, Taiwan.
authors.forename: Hsu-Kuang
authors.initials: HK
authors.lastname: Huang
authors.affiliation: Department of Radiology, Mackay Memorial Hospital Hsinchu Branch, Hsinchu, Taiwan; Mackay Junior College of Medicine, Nursing and Management, Taipei, Taiwan.
authors.forename: Yu-Peng
authors.initials: YP
authors.lastname: Liu
authors.affiliation: Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan.
authors.forename: Schu-Rern
authors.initials: SR
authors.lastname: Chern
authors.affiliation: Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan; Department of Obstetrics and Gynecology, China Medical University Hospital, Taichung, Taiwan.
authors.forename: Jun-Wei
authors.initials: JW
authors.lastname: Su
authors.affiliation: Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.
authors.forename: Wayseen
authors.initials: W
authors.lastname: Wang
mesh_terms: D000168:Acrocephalosyndactylia / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics*; D000328:Adult; D005094:Exophthalmos / Q000000981:diagnostic imaging / Q000209:etiology*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D011859:Radiography; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics*; D016216:Ultrasonography, Prenatal
chemical_list: C496353:FGFR2 protein, human; D051497:Receptor, Fibroblast Growth Factor, Type 2