Kuzucu Pelin, Kale Aydemir, Asadov İmran, Börcek Alp Özgün
Department of Neurosurgery, Gazi University, Ankara, Türkiye.
BMC Pediatr. 2025 Oct 31;25(1):888. doi: 10.1186/s12887-025-06213-3.
Our aim in this article is to contribute to the clinical findings of Moebius syndrome with the association of synostosis published for the first time.
In 2023, the Pediatric Neurosurgery Department operated sagittal synostosis case with Moebius syndrome was retrieved from the neurosurgery archive with literatüre review. A 6-month-old girl who could not close her eyes and mouth after birth was followed up in another hospital with the diagnosis of Moebius Syndrome and was referred to us because of cranial deformity.
Moebius syndrome is a syndrome whose cause and clinical framework still need to be fully clarified and is being updated with studies. For this reason, it is essential to recognize the clinical findings seen in patients well, to direct them to genetic research if necessary, and to pay attention to new manifestations that may be added in this context in terms of scientific transfer.
本文旨在首次发表有关伴有颅骨融合的默比厄斯综合征的临床研究结果。
2023年，通过文献回顾，从神经外科档案中检索到小儿神经外科治疗的1例伴有默比厄斯综合征的矢状缝早闭病例。一名6个月大的女孩出生后无法闭眼和闭嘴，在另一家医院被诊断为默比厄斯综合征并接受随访，后因颅骨畸形转诊至我院。
默比厄斯综合征是一种病因和临床框架仍需充分阐明且正在通过研究不断更新的综合征。因此，充分认识患者的临床表现、必要时引导他们进行基因研究，并在科学传播方面关注在此背景下可能出现的新表现至关重要。
