Abstract：
BACKGROUND: Nablus mask-like facial syndrome (NMFLS) is an extremely rare genetic syndrome characterized by facial dysmorphia as well as developmental delay. In the present report we describe a potential association between non-traumatic atlanto-occipital dislocation and NMFLS in an 11-year old female lacking typical facial features of NMFLS.
METHODS: An 11-year-old female with autism presented with symptoms of persistent headache and vomiting as well as neck stiffness. Further investigation and CT imaging revealed congenital malformation of the skull base and craniocervical junction with complete posterior subluxation of the left occipital condyle. MRI findings later corroborated the findings on CT.
CONCLUSIONS: The patient was successfully treated with occipitocervical fusion. The findings in this case suggest the possibility that atlanto-occipital instability and generalized occipitocervical may be associated with NMFLS.
METHODS: An 11-year-old female with autism presented with symptoms of persistent headache and vomiting as well as neck stiffness. Further investigation and CT imaging revealed congenital malformation of the skull base and craniocervical junction with complete posterior subluxation of the left occipital condyle. MRI findings later corroborated the findings on CT.
CONCLUSIONS: The patient was successfully treated with occipitocervical fusion. The findings in this case suggest the possibility that atlanto-occipital instability and generalized occipitocervical may be associated with NMFLS.
摘要：
背景：纳布卢斯面具样面部综合征（NMFLS）是一种极其罕见的遗传综合征，其特征是面部畸形和发育迟缓。在本报告中，我们描述了一名11岁女性缺乏典型的NMFLS面部特征的非创伤性寰枕脱位与NMFLS之间的潜在关联。
方法：一名11岁的自闭症女性，表现为持续头痛和呕吐以及颈部僵硬的症状。进一步的检查和CT成像显示颅底和颅颈交界处先天性畸形，左枕骨髁完全后半脱位。MRI结果后来证实了CT上的发现。
结论：患者采用枕颈融合术治疗成功。在这种情况下的发现表明，寰枕不稳定和广泛性枕颈可能与NMFLS有关。
方法：一名11岁的自闭症女性，表现为持续头痛和呕吐以及颈部僵硬的症状。进一步的检查和CT成像显示颅底和颅颈交界处先天性畸形，左枕骨髁完全后半脱位。MRI结果后来证实了CT上的发现。
结论：患者采用枕颈融合术治疗成功。在这种情况下的发现表明，寰枕不稳定和广泛性枕颈可能与NMFLS有关。
