Achados audiológicos e eletrofisiológicos de indivíduos com a síndrome G/BBB

Abstract

The G/BBB syndrome is a rare condition characterized by hypertelorism, cleft lip and palate, and hypospadias. No studies were found on the hearing of individuals with this syndrome. Aim To investigate the auditory function in patients with G/BBB syndrome, such as the occurrence of hearing loss, and central and peripheral auditory nerve conduction. Methods Fourteen male patients aged 7-34 years with the G/BBB syndrome were assessed by otoscopy, audiometry, tympanometry and evoked auditory brainstem response (ABR). Model: A retrospective clinical series study. Results Audiometric thresholds were normal in 12 (66.7%) of the sample and altered in two (33.3%), one with conductive and one with sensorineural loss. ABR resuts were: all patients had normal absolute wave I latencies; absolute wave III and V latencies were increased in two and six patients, respectively; interpeak latencies I-III, IV and V interpeak latencies were increased in four, three and eight patients respectively. Conclusion Hearing loss can occur in the G/BBB syndrome. There is evidence of central auditory pathway involvement in the brainstem. Imaging studies are needed to clarify the clinical findings.

A Rare Case of Telecanthus-Hypospadias Syndrome in a Pediatric Patient

“…They discovered that 12 of the patients had normal auditory thresholds and two had changed thresholds. When hearing loss occurs, the central auditory pathway is implicated in the brainstem, necessitating imaging studies [ 10 ]. As telecanthus-hypospadias syndrome has a wide range of signs and symptoms showing varied phenotypic variations in different patients ranging from mild to life-threatening conditions, therefore, it is imperative to have monitoring of symptoms in these patients.…”