Division of Plastic, Reconstructive, and Oral Surgery, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Department of Radiology, University of Pennsylvania, Pennsylvania, PA, USA.
Childs Nerv Syst. 2024 Nov;40(11):3683-3691. doi: 10.1007/s00381-024-06518-1. Epub 2024 Jul 11.
The spheno-occipital synchondrosis (SOS) is an important site of endochondral ossification in the cranial base that closes prematurely in Apert, Crouzon, and Pfeiffer syndromes, which contributes to varying degrees of midface hypoplasia. The facial dysmorphology of Muenke syndrome, in contrast, is less severe with low rates of midface hypoplasia. We thus evaluated the timing of SOS fusion and cephalometric landmarks in patients with Muenke syndrome compared to normal controls.
Patients with Muenke syndrome who had at least one fine-cut head computed tomography scan performed from 2000 to 2020 were retrospectively reviewed. A case-control study was performed of patient scans and age- and sex-matched control scans. SOS fusion status was evaluated as open, partially closed, or closed.
We included 28 patients and compared 77 patient scans with 77 control scans. Kaplan-Meier analysis demonstrated an insignificantly earlier timeline of SOS fusion in Muenke syndrome (p = 0.300). Mean sella-orbitale (SO) distance was shorter (44.0 ± 6.6 vs. 47.7 ± 6.7 mm, p < 0.001) and mean sella-nasion-Frankfort horizontal (SN-FH) angle was greater (12.1° ± 3.8° vs. 10.1° ± 3.2°, p < 0.001) in the Muenke group, whereas mean sella-nasion-A point (SNA) angle was similar and normal (81.1° ± 5.7° vs. 81.4° ± 4.7°, p = 0.762).
Muenke syndrome is characterized by mild and often absent midfacial hypoplasia, with the exception of slight retropositioning of the infraorbital rim. Interestingly, SOS fusion patterns in these patients are not significantly different from age- and sex-matched controls despite an increased odds of fusion. It is possible that differences in timing of SOS fusion may manifest phenotypically at the infraorbital rim rather than at the maxilla.
蝶枕结合（SOS）是颅底软骨内成骨的重要部位，在 Apert、Crouzon 和 Pfeiffer 综合征中过早闭合，导致中面部不同程度的发育不全。相比之下，Muenke 综合征的面部畸形较轻，中面部发育不全的发生率较低。因此，我们评估了 SOS 融合的时间以及 Muenke 综合征患者与正常对照者的头影测量标志点。
回顾性分析 2000 年至 2020 年间至少接受过一次精细头部 CT 扫描的 Muenke 综合征患者。对患者扫描与年龄和性别匹配的对照扫描进行病例对照研究。评估 SOS 融合状态为开放、部分闭合或闭合。
共纳入 28 例患者，比较了 77 例患者扫描与 77 例对照扫描。Kaplan-Meier 分析显示，Muenke 综合征 SOS 融合的时间线无显著提前（p=0.300）。蝶鞍眶距（SO）均值更短（44.0±6.6 与 47.7±6.7 mm，p<0.001），蝶鞍额平面-FH 角均值更大（12.1°±3.8°与 10.1°±3.2°，p<0.001），而 Muenke 组的蝶鞍额平面-NA 角均值相似且正常（81.1°±5.7°与 81.4°±4.7°，p=0.762）。
Muenke 综合征的特点是中面部发育不全较轻且常不明显，除眶下缘轻度后移外。有趣的是，尽管融合的可能性增加，但这些患者的 SOS 融合模式与年龄和性别匹配的对照组并无显著差异。SOS 融合时间的差异可能在眶下缘而非上颌骨表现出表型。
