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Nager 综合征:一例报告。

Nager syndrome: a case report.

机构信息

Division of Medical Genetics, Department of Pediatrics, Chang-Gung Memorial Hospital, Chung Gung University College of Medicine, Taoyuan, Taiwan.

出版信息

Pediatr Neonatol. 2012 Apr;53(2):147-50. doi: 10.1016/j.pedneo.2012.01.014. Epub 2012 Mar 3.

Abstract

Nager syndrome (preaxial acrofacial dysostosis) is rare and mostly sporadic. We present a case of Nager syndrome in Taiwan. Craniofacial findings included micrognathia, malar hypoplasia, downslanting palpebral fissures, cleft palate, and ear anomalies. Radial defects consisted of hypoplastic thumb, short forearm, and proximal radioulnar synostosis. Patent ductus arteriosus, atrial septal defect, lower limb deformities, and uncommon flat nasal bridge were noted. Nasal endotube passing through a narrowing oropharynx region or oral airway is life-saving before tracheostomy is performed on patients with Nager syndrome and restricted jaw opening and glossoptosis.

摘要

纳尔逊综合征(前轴颅面发育不全)较为罕见,多为散发。我们报告 1 例发生于台湾的纳尔逊综合征病例。颅面特征包括小下颌、颧骨发育不全、睑裂下斜、腭裂和耳部异常。桡骨缺陷包括拇指发育不全、前臂短小和近侧桡尺骨融合。还可见动脉导管未闭、房间隔缺损、下肢畸形和不常见的扁平鼻骨。在对有纳尔逊综合征、下颌骨开口受限和悬雍垂下垂的患者进行气管切开术之前,经鼻内管穿过狭窄的口咽部或口腔气道是救命之举。

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