Umeda Hirotsugu, Shiraishi Mami, Mishima Katsuaki
Department of Oral and Maxillofacial Surgery, Yamaguchi University Graduate School of Medicine, Ube, JPN.
Cureus. 2023 Jul 2;15(7):e41290. doi: 10.7759/cureus.41290. eCollection 2023 Jul.
Hypoglossia-hypodactylia syndrome is an extremely rare congenital anomaly characterized by a hypoplastic mandible, absence of the lower incisors, hypoglossia, and a variable degree of absence of the digits and limbs, with a risk of dysarthria and dysphagia. We report the articulation function and the swallowing function of a patient with hypoglossia-hypodactylia syndrome who was followed up to eight years old. Our patient did not have feeding and swallowing disturbances. She did not have articulatory disturbance, including /t/ and /r/, of the sound articulated using a proglossis. In the future, it is necessary to have a plastic operation for abnormal adhesion of the lower lip and mandibular gingiva and depression on the lower lip, and distraction osteogenesis for micrognathia. Also, it will be necessary to continuously monitor for an articulatory disturbance until the child uses more words. Therefore, a long-term intervention with a multidisciplinary approach is necessary.
舌下-指趾发育不全综合征是一种极其罕见的先天性异常，其特征为下颌骨发育不全、下切牙缺失、舌下发育不全以及不同程度的指趾和肢体缺失，并伴有构音障碍和吞咽困难的风险。我们报告了一名随访至8岁的舌下-指趾发育不全综合征患者的发音功能和吞咽功能。我们的患者没有喂养和吞咽障碍。她在使用舌前部发音时没有出现包括/t/和/r/在内的发音障碍。未来，有必要对下唇与下颌牙龈的异常粘连及下唇凹陷进行整形手术，并对小颌畸形进行牵张成骨术。此外，在儿童使用更多词汇之前，有必要持续监测发音障碍。因此，需要采用多学科方法进行长期干预。
