Khera Daisy, Agarwal Saurabh, Kumar Prawin, Singh Kuldeep
Department of Pediatrics, All India Institute of Medical Sciences Jodphur, Jodhpur, India
Department of Pediatrics, All India Institute of Medical Sciences Jodphur, Jodhpur, India.
BMJ Case Rep. 2021 Mar 3;14(3):e234181. doi: 10.1136/bcr-2019-234181.
A 2-month-old boy presented to us with bilateral microtia, left lower motor neuron facial palsy, micrognathia, hemivertebra, bifid rib, bifid thumb and absent/hypoplastic right-sided depressor anguli oris. He had bilateral external auditory canal atresia, although response to loud sound was present. Brain stem evoked response audiometry (BERA) was advised at 3 months of age. Karyotype was normal. We diagnosed him as a case of oculo-auriculo-vertebral spectrum. Child was discharged on request by the family with the plan for bone-anchored hearing aid after BERA and plan for pinna and ear canal reconstruction at a later age but child did not come for any follow-up visit. On telephonic enquiry, it was found that he is thriving well but has developmental delay including speech delay. We conclude that children presenting with external ear abnormalities should be screened for multiple congenital anomalies so that a multidisciplinary approach to management can be planned.
一名2个月大的男婴前来我院就诊，其存在双侧小耳畸形、左侧下运动神经元性面瘫、小颌畸形、半椎体、肋骨分叉、拇指分叉以及右侧降口角肌缺如/发育不全。他双侧外耳道闭锁，但对大声响有反应。建议在3个月大时进行脑干听觉诱发电位（BERA）检查。染色体核型正常。我们将其诊断为眼-耳-脊椎综合征。患儿家属要求出院，计划在完成BERA检查后佩戴骨锚式助听器，并在稍大年龄进行耳廓和耳道重建，但患儿未前来进行任何随访。通过电话询问得知，他生长发育良好，但存在发育迟缓，包括语言发育迟缓。我们得出结论，对于出现外耳异常的儿童，应筛查是否存在多种先天性异常，以便制定多学科管理方案。
