Department of Surgery, Section of Plastic Surgery, Yale University School of Medicine, CT.
Department of Genetics, Yale University School of Medicine, New Haven, CT.
J Craniofac Surg. 2021;32(8):2660-2665. doi: 10.1097/SCS.0000000000007910.
Classic features of Saethre-Chotzen syndrome (SCS) described in the literature include a prominent nasal bridge, eyelid ptosis, telorbitism, maxillary hypoplasia, and mandibular prognathism. The purpose of this study was to evaluate objectively the bony features of SCS.
Preoperative computer tomography scans of 15 SCS patients, 23 normal controls, 13 bicoronal nonsyndromic, and 7 unicoronal nonsyndromic craniosynostosis patients were included for analysis. Unaffected controls and nonsyndromic patients were age- and sex-matched to SCS patients. Morphometric cephalometrics were analyzed using three-dimensional computer tomography reconstructions. Mann-Whitney U were used to compare facial measurements between SCS and normal and nonsyndromic craniosynostosis controls.
Telorbitism was present in bicoronal SCS patients only (P = 0.04) but absent in the unicoronal and bicoronal/metopic cohorts. The angle of the nasal bone relative to the sella was not different between SCS and controls (P = 0.536), although the angle of the nasal bone relative to the forehead was decreased in SCS by 15.5° (P < 0.001). Saethre-Chotzen syndrome had a 2.6° maxillary retrusion relative to controls (P = 0.03). In addition, SCS patients aged 4 to 7 months had a wider (39.34 versus 35.04, P = 0.017) and anteroposteriorly foreshortened (32.12 versus 35.06, P = 0.039) maxilla. There was no difference in mandibular prognathism among SCS patients as measured by the sella-nasion-B point angle compared to controls (P = 0.705).
Despite classic descriptions, on morphometric analysis SCS patients did not demonstrate consistency across all suture subtypes in terms of telorbitism, a broad nasal bridge, or mandibular prognathism. Rather, SCS subtypes of SCS based on suture pathology more closely resemble nonsyndromic patients.
Saethre-Chotzen 综合征（SCS）的经典特征包括明显的鼻梁、眼睑下垂、眶距增宽、上颌骨发育不良和下颌前突。本研究的目的是客观评估 SCS 的骨骼特征。
纳入 15 例 SCS 患者、23 例正常对照、13 例双冠状非综合征性和 7 例单冠状非综合征性颅缝早闭患者的术前计算机断层扫描。正常对照和非综合征性患者与 SCS 患者按年龄和性别匹配。使用三维计算机断层扫描重建进行形态测量颅面测量。Mann-Whitney U 检验用于比较 SCS 与正常和非综合征性颅缝早闭对照组的面部测量值。
仅双冠状 SCS 患者存在眶距增宽（P=0.04），而单冠状和双冠状/额状缝患者则不存在。SCS 与对照组相比，鼻骨相对于蝶鞍的角度无差异（P=0.536），但 SCS 组鼻骨相对于额部的角度减小了 15.5°（P<0.001）。SCS 与对照组相比，上颌后缩 2.6°（P=0.03）。此外，4 至 7 月龄的 SCS 患者上颌骨更宽（39.34 对 35.04，P=0.017），前后径缩短（32.12 对 35.06，P=0.039）。SCS 患者的下颌前突程度（通过鞍点-前颅底点-下颌点角测量）与对照组无差异（P=0.705）。
尽管有经典描述，但从形态测量分析来看，SCS 患者在眶距增宽、宽鼻梁或下颌前突方面，各缝型之间并不一致。相反，根据缝型病理的 SCS 亚型更类似于非综合征性患者。
