Abdollahi Fakhim Shahin, Shahidi Nikzad, Mousaviagdas Mehrnoush
Department of otorhinolaryngology, Tabriz University of Medical Sciences, Tabriz, Iran.
Iran J Otorhinolaryngol. 2012 Winter;24(66):45-50.
Nager syndrome is a malformation resulting from problems in the development of the first and second branchial arches and limb buds. The cause of the abnormal development of the pharyngeal arches in Nager syndrome is unknown. It is also unclear why affected individuals have bone abnormalities in their arms and legs. Nager syndrome is thought to have an autosomal recessive inheritance pattern when unaffected parents have more than one affected child. The purpose of this report is to present a case of Nager syndrome where the patient exhibited upper limb shortening, an unusual feature that has been reported as coexisting in some individuals with Nager syndrome.
A 3.5-year-old girl was referred to our Department of Pediatric Otorhinolaryngology due to a cleft palate. Her craniofacial anomalies included malar hypoplasia, severe mandibular hypoplasia with retrognathia, downward slanted palpebral fissures, a high narrow hard palate, absent soft palate, small retroplaced tongue, bilateral external auditory canal atresia, and dysplastic ears. There was no evidence of mental retardation. Based on the craniofacial characteristics and the coexisting upper limb preaxial anomalies, a diagnosis of Nager syndrome was confirmed.
Nager syndrome is a rare disorder resulting from developmental abnormalities of the first and second branchial arches. It is linked to five other similar syndromes: Miller syndrome, Treacher-Collins, Pierre-Robin, Genee-Wiedemann, and Franceschetti-Zwahlen-Klein. Multidisciplinary management by a craniofacial team is needed. Early intervention, intensive education, new surgical techniques, and an emphasis on coordinated care have improved the quality of life in this patient with Nager syndrome.
纳热尔综合征是一种由第一和第二鳃弓及肢体芽发育问题导致的畸形。纳热尔综合征中咽弓异常发育的原因尚不清楚。同样不清楚的是，为何受影响个体的手臂和腿部会出现骨骼异常。当未受影响的父母有不止一个患病孩子时，纳热尔综合征被认为具有常染色体隐性遗传模式。本报告的目的是呈现一例纳热尔综合征病例，该患者表现出上肢缩短，这是一种已报道在部分纳热尔综合征患者中并存的不寻常特征。
一名3.5岁女孩因腭裂被转诊至我院小儿耳鼻咽喉科。她的颅面畸形包括颧骨发育不全、严重下颌发育不全伴下颌后缩、睑裂向下倾斜、高而窄的硬腭、软腭缺如、小的后置舌、双侧外耳道闭锁及发育不良的耳朵。没有智力发育迟缓的证据。基于颅面特征及并存的上肢轴前异常，确诊为纳热尔综合征。
纳热尔综合征是一种由第一和第二鳃弓发育异常导致的罕见疾病。它与其他五种类似综合征相关：米勒综合征、特雷彻 - 柯林斯综合征、皮埃尔 - 罗宾综合征、吉内 - 维德曼综合征和弗朗切斯科蒂 - 茨瓦伦 - 克莱因综合征。需要颅面团队进行多学科管理。早期干预、强化教育、新的手术技术以及对协调护理的重视改善了这名纳热尔综合征患者的生活质量。
