Agochukwu Nneamaka Barbara, Solomon Benjamin D, Doherty Emily S, Muenke Maximilian
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
J Craniofac Surg. 2012 May;23(3):664-8. doi: 10.1097/SCS.0b013e31824db8bb.
Although Muenke syndrome is the most common syndromic form of craniosynostosis, the frequency of oral and palatal anomalies including high-arched palate, cleft lip with or without cleft palate has not been documented in a patient series of Muenke syndrome to date. Further, to our knowledge, cleft lip and palate has not been reported yet in a patient with Muenke syndrome (a previous patient with isolated cleft palate has been reported). This study sought to evaluate the frequency of palatal anomalies in patients with Muenke syndrome through both a retrospective investigation and literature review. A total of 21 patients who met criteria for this study were included in the retrospective review. Fifteen patients (71%) had a structural anomaly of the palate. Cleft lip and palate was present in 1 patient (5%). Other palatal findings included high-arched hard palate in 14 patients (67%). Individuals with Muenke syndrome have the lowest incidence of cleft palate among the most common craniosynostosis syndromes. However, high-arched palate in Muenke syndrome is common and may warrant clinical attention, as these individuals are more susceptible to recurrent chronic otitis media with effusion, dental malocclusion, and hearing loss.
尽管孟克综合征是最常见的综合征性颅缝早闭形式，但迄今为止，在孟克综合征患者系列中，包括高拱腭、唇裂伴或不伴腭裂在内的口腔和腭部异常的发生率尚未见文献记载。此外，据我们所知，孟克综合征患者中尚未有唇腭裂的报道（之前有一例孤立性腭裂患者的报道）。本研究旨在通过回顾性调查和文献综述来评估孟克综合征患者腭部异常的发生率。共有21例符合本研究标准的患者纳入回顾性分析。15例患者（71%）存在腭部结构异常。1例患者（5%）有唇腭裂。其他腭部表现包括14例患者（67%）出现高拱硬腭。在最常见的颅缝早闭综合征中，孟克综合征患者的腭裂发生率最低。然而，孟克综合征患者中高拱腭很常见，可能需要临床关注，因为这些患者更容易发生复发性慢性分泌性中耳炎、牙列不齐和听力损失。
