Danziger I, Brodsky L, Perry R, Nusbaum S, Bernat J, Robinson L
Department of Otolaryngology, State University of New York, School of Medicine, Buffalo.
Int J Pediatr Otorhinolaryngol. 1990 Dec;20(3):225-40. doi: 10.1016/0165-5876(90)90353-s.
Nager's acrofacial dysostosis is a rare congenital anomaly in which mandibulofacial dysostosis is seen in combination with limb deformities, particularly hypoplasia of the radial aspect of the hand. A boy with a severe manifestation of this syndrome is presented. Deformities include severe bilateral mandibular hypoplasia with trismus, malar hypoplasia, downward sloping palpebral fissures, high-arched hard palate, absent soft palate, external auditory and middle ear abnormalities and bilateral hand deformities. The diagnosis and treatment difficulties in this patient are discussed in light of those reported in the literature. An interdisciplinary team approach to the management of patients with Nager syndrome is emphasized.
纳热氏肢面发育不全是一种罕见的先天性异常，表现为下颌面发育不全合并肢体畸形，尤其是手部桡侧发育不全。本文报告了一名患有该综合征严重表现的男孩。畸形包括严重的双侧下颌发育不全伴牙关紧闭、颧骨发育不全、睑裂向下倾斜、硬腭高拱、软腭缺如、外耳道和中耳异常以及双侧手部畸形。结合文献报道讨论了该患者的诊断和治疗难点。强调了采用多学科团队方法管理纳热综合征患者。
