Service d'ORL et Chirurgie Cervicofaciale et Audiophonologie, CHU Rouen, France.
Service d'ORL et Chirurgie Cervicofaciale et Audiophonologie, CHU Rouen, France; UR 3830 GRHVN, Université de Rouen Normandie, France.
Int J Pediatr Otorhinolaryngol. 2023 Aug;171:111606. doi: 10.1016/j.ijporl.2023.111606. Epub 2023 Jun 11.
Our objective was to reinforce clinical knowledge of hearing impairment in KBG syndrome. KBG syndrome is a rare genetic disorder due to monoallelic pathogenic variations of ANKRD11.The typical phenotype includes facial dysmorphism, costal and spinal malformation and developmental delay. Hearing loss in KBG patients has been reported for many years, but no study has evaluated audiological phenotyping from a clinical and an anatomical point of view.
This French multicenter study included 32 KBG patients with retrospective collection of data on audiological features, ear imaging and genetic investigations.
We identified a typical audiological profil in KBG syndrome: conductive (71%), bilateral (81%), mild to moderate (84%) and stable (69%) hearing loss, with some audiological heterogeneity. Among patients with an abnormality on CT imaging (55%), ossicular chain impairment (67%), fixation of the stapes footplate (33%) and inner-ear malformations (33%) were the most common abnormalities.
We recommend a complete audiological and radiological evaluation and an ENT-follow up in all patients presenting with KBG Syndrome. Imaging evaluation is necessary to determine the nature of lesions in the middle and inner ear.
我们旨在强化对 KBG 综合征患者听力障碍的临床认识。KBG 综合征是一种罕见的遗传性疾病，由 ANKRD11 单等位基因突变引起。其典型表型包括面部畸形、肋骨和脊柱畸形以及发育迟缓。多年来已有 KBG 患者听力损失的报道，但尚无研究从临床和解剖学角度评估听觉表型。
本项法国多中心研究纳入了 32 名 KBG 患者，回顾性收集了听力特征、耳部影像学和遗传学调查数据。
我们发现 KBG 综合征具有典型的听力障碍特征：传导性（71%）、双侧（81%）、轻至中度（84%）和稳定（69%）听力损失，存在一定程度的听力障碍异质性。在 CT 影像学异常的患者中（55%），最常见的异常为听小骨链异常（67%）、镫骨底板固定（33%）和内耳畸形（33%）。
我们建议所有 KBG 综合征患者进行全面的听力和影像学评估以及耳鼻喉科随访。影像学评估对于确定中耳和内耳病变的性质是必要的。
