モエビウス症候群に関連した上肢無力症。症例報告

Ankyloglossia Superior Associated With Moebius Syndrome: A Case Report.

• Rafaela Costa Freire
• Ana Paula da Cunha Barbosa
• Michael David Han
• Alexandre Meireles Borba

抄録

上行性斜角症は、舌と硬口蓋の間の結合からなる非常にまれな先天性疾患です。この異常は、四肢奇形、胃腸奇形、口蓋裂などの他の奇形と一緒に見られる場合、上顎無関節症症候群の一部と考えられています。上行性無脚症は他の既知の症候群との関連性もある。手足の部分的閉塞、小鼻症、顔面筋の無表情、収束性斜視、口の開口制限、舌と口蓋の癒着を含む複数の奇形を呈して生まれた雌の乳児の症例を紹介した。診察時の診断はMoebius症候群を合併した上肢強剛性斜視であった．コンピュータ断層撮影により、上顎無重力症の範囲と口蓋棚の完全性の喪失が明らかになった。上顎無関節症の手術は全身麻酔下で行われた。術後の管理には多くの課題があった。我々の知る限りでは、モエビウス症候群に合併した上顎無関節症は、これまで正式に報告された症例はなかった。

Ankyloglossia superior is an exceedingly rare congenital condition that consists of a connection between the tongue and hard palate. This abnormality is considered part of the ankyloglossia superior syndrome when found with other malformations such as limb deformities, gastrointestinal malformation, and cleft palate. Ankyloglossia superior can also be associated with other known syndromes. We have presented the case of a female infant born with multiple malformations, including partial agenesis of the feet and hands, micrognathia, a lack of expression of the facial muscles, convergent strabismus, mouth opening limitation, and tongue-palate adhesion. The patient's presenting diagnosis was ankyloglossia superior associated with Moebius syndrome. Computed tomography revealed the extent of the ankyloglossia superior and the loss of integrity of the palatal shelf. Surgical release of the ankyloglossia superior was performed with the patient under general anesthesia. Multiple management challenges were encountered postoperatively. To the best of our knowledge, ankyloglossia superior presenting in conjunction with Moebius syndrome had not been formally described in a case report.

Copyright © 2019 American Association of Oral and Maxillofacial Surgeons. Published by Elsevier Inc. All rights reserved.