Horgan J E, Padwa B L, LaBrie R A, Mulliken J B
Harvard School of Dental Medicine, Boston, Massachusetts, USA.
Cleft Palate Craniofac J. 1995 Sep;32(5):405-12. doi: 10.1597/1545-1569_1995_032_0405_opaoca_2.3.co_2.
This review of 121 patients with hemifacial microsomia (HFM) revealed that 67 (55.4%) had extracraniofacial anomalies. Sixteen patients (13%) had one extracraniofacial anomaly and 51 patients (42.4%) had anomalies of multiple organ systems. There was no gender or side predominance in the cohort with the HFM "expanded spectrum." Central nervous system (CNS), cardiac, and skeletal anomalies were "associated" (i.e., had frequencies of 10% or more). Pulmonary, gastrointestinal, and renal deformities were equivocally associated. Statistical analysis indicated significant associations between several orbital, mandibular, ear, neural, and soft tissue (OMENS) variables and extracraniofacial anomalies. Patients with extracraniofacial structural defects had higher OMENS grades for individual craniofacial anatomic categories. Furthermore, patients with expanded spectrum had higher total OMENS scores. The frequency of cardiac anomalies (26%) supports the model of neural crest involvement in the pathogenesis of both hemifacial microsomia and conotruncal defects. The majority of the heart defects in this study were of either the outflow or septal type. We propose that the OMENS classification system for craniofacial anomalies of HFM be expanded to OMENS-Plus (+) to designate the presence of associated extracraniofacial anomalies.
对121例半侧颜面短小畸形（HFM）患者的这项回顾性研究显示，67例（55.4%）存在颅外面部异常。16例患者（13%）有1种颅外面部异常，51例患者（42.4%）有多器官系统异常。在HFM“扩展谱系”队列中，不存在性别或左右侧优势。中枢神经系统（CNS）、心脏和骨骼异常呈“相关”（即发生率为10%或更高）。肺部、胃肠道和肾脏畸形的相关性不明确。统计分析表明，几个眼眶、下颌骨、耳部、神经和软组织（OMENS）变量与颅外面部异常之间存在显著关联。有颅外结构缺陷的患者在各个颅面解剖类别中的OMENS分级更高。此外，具有扩展谱系的患者总OMENS评分更高。心脏异常的发生率（26%）支持神经嵴参与半侧颜面短小畸形和圆锥干畸形发病机制的模型。本研究中的大多数心脏缺陷为流出道或间隔类型。我们建议将HFM颅面异常的OMENS分类系统扩展为OMENS-Plus（+），以表明存在相关的颅外面部异常。
