From the Dutch Craniofacial Center, Department of Oral and Maxillofacial Surgery.
Department of Plastic and Reconstructive Surgery, Erasmus University Medical Center, Sophia's Children's Hospital.
Plast Reconstr Surg. 2023 May 1;151(5):1053-1061. doi: 10.1097/PRS.0000000000010090. Epub 2022 Dec 21.
Craniofacial microsomia (CFM) is characterized by several malformations related to the first and second pharyngeal arch. Patients typically present with facial asymmetry, but extracraniofacial organ systems might be involved, including limb anomalies. The purpose of this study was to analyze the occurrence of upper and lower limb anomalies in CFM patients. Furthermore, the relation between limb anomalies and the OMENS+ (orbital distortion; mandibular hypoplasia; ear anomaly; nerve involvement; soft-tissue deficiency; and associated extracraniofacial anomalies) classification was examined.
A retrospective study was conducted including patients with CFM from craniofacial units in three different countries. Patients were included when clinical and/or radiographic images were available. Demographic, radiographic, and clinical information was obtained.
A cohort of 688 patients was available and selected for analysis. In total, 18.2% of the patients were diagnosed with at least one upper and/or lower limb anomaly. Upper and lower limb anomalies were seen in, respectively, 13.4% and 7.8% of patients. Patients with other extracraniofacial anomalies had a significantly higher risk for limb anomalies (OR, 27.98; P = 0.005). Laterality of CFM and a higher OMENS score were not associated with limb anomalies.
More than one in six patients with craniofacial microsomia have limb anomalies. Therefore, clinical awareness for these anomalies is warranted. Examination and, if present, follow-up on limb abnormalities in patients with CFM should be implemented in the standard assessment of CFM patients.
CLINICAL QUESTION/LEVEL OF EVIDENCE: Risk, III.
颅面短小症（CFM）的特征是与第一和第二咽弓相关的几种畸形。患者通常表现为面部不对称，但也可能涉及颅外器官系统，包括肢体异常。本研究旨在分析 CFM 患者上肢和下肢异常的发生情况。此外，还检查了肢体异常与 OMENS+（眼眶畸形；下颌骨发育不全；耳部异常；神经受累；软组织不足；和相关颅外异常）分类之间的关系。
进行了一项回顾性研究，纳入了来自三个不同国家的颅面单位的 CFM 患者。当有临床和/或影像学图像时，患者被纳入研究。获得了人口统计学、影像学和临床信息。
共有 688 名患者可供选择进行分析。总的来说，18.2%的患者被诊断为至少有一个上肢和/或下肢异常。分别有 13.4%和 7.8%的患者出现上肢和下肢异常。有其他颅外异常的患者发生肢体异常的风险显著增加（OR，27.98；P = 0.005）。CFM 的侧别和更高的 OMENS 评分与肢体异常无关。
超过六分之一的颅面短小症患者有肢体异常。因此，需要对这些异常有临床意识。在 CFM 患者的标准评估中，应进行对这些患者的肢体异常的检查，如果存在，应进行随访。
临床问题/证据水平：风险，III。
