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How Craniofacial Anomalies Can Obscure the Diagnosis of Unilateral Auditory Neuropathy Spectrum Disorder: A Case Study.

Comorbidities are common with craniofacial anomalies and can include auditory neuropathy spectrum disorder (ANSD). Identification of these comorbidities, such as a diagnosis of ANSD, has increased with expanded multi-disciplinary care teams and the use of auditory objective measures. Patients with craniofacial anomalies often have complex medical histories including extreme prematurity and jaundice, which may lead to the development of additional comorbidities. The 5-year-old boy that is the subject of this case study presented with noted developmental delays and residing in foster care with an unknown family/medical history. Initially presenting with middle ear dysfunction, exacerbated by craniofacial anomalies, the underlying cause of his speech delays was missed. Behavioral audiometry was attempted with inaccurate results. Surgery was performed to correct the craniofacial anomalies, middle ear dysfunction, and was followed with auditory brainstem response (ABR) testing. The boy healed well without complications. The ABR revealed ANSD, hearing aids were fitted for the diagnosis, regular speech therapy was initiated, and the boy continues to make steady progress toward developmental milestones. The purpose of this case study was to highlight the course of identification and treatment of a complex case that may provide insight into determining a differential diagnosis of ANSD when initially obscured by craniofacial anomalies.