CT findings of a patient with Hay-Wells syndrome: a case report

Hay-Wells syndrome is a rare genetic disorder caused by a heterozygous mutation in the TP63 gene that affects the development of ectodermal derivatives. While the exact prevalence of hearing loss in this condition is not well established, it has been suggested that approximately 50% of patients may present with varying degrees of hearing impairment. Here we present a case of a 6-year-old female patient diagnosed with Hay-Wells syndrome since birth who has been developing hearing loss predominantly on the right side for the past year. Considering the embryological origin of the external ear, an associated abnormality with the syndrome cannot be disregarded. Early recognition and diagnosis of this syndrome are crucial for appropriate management and potential interventions for hearing loss. Utilizing imaging methods can aid in demonstrating the characteristic alterations of the syndrome, which is important given its low incidence in the general population. This case report emphasizes the significance of prompt diagnosis, which is critical for implementing genetic counseling and effective disease prevention measures. We should be well-versed in the characteristic imaging findings that aid in early identification and genetic diagnosis of the disorder.