OBJECTIVE: To study the results of petrosal bone imaging and audiometric long-term follow-up of two @entity1 with @entity5807 and relate them to the clinical features, including caloric responses. STUDY DESIGN: Longitudinal case study. SETTING: Tertiary referral center. @entity1 : A father and son with the @entity5807 . MAIN OUTCOME MEASURES: Both @entity1 underwent imaging studies to detect and evaluate @entity389 . Longitudinal audiometric analysis of the hearing threshold data over the previous 23 years was performed. Caloric tests were performed at various ages. RESULTS: The son had a short, wide internal acoustic canal, a hypoplastic cochlea, a plump vestibule, and a wide vestibular aqueduct on both sides; the semicircular canals and endolymphatic sac were of normal size. He showed @entity1274 . Caloric tests disclosed @entity427 on the left side. The father had a plump internal acoustic canal and hypoplastic cochlea on both sides. The left vestibule was hypoplastic, and the @entity8468 was marginally enlarged. He showed severe @entity393 , without substantial progression or fluctuation, and caloric areflexia on the left side. CONCLUSION: These findings suggest a correlation between @entity1274 with @entity1887 and the presence of an @entity15902 in the @entity5807 . Additional longitudinal case studies are needed to further evaluate such a correlation.

Progressive fluctuant @entity393 , @entity15902 , and cochlear hypoplasia in XXXX .

@entity1 :: ('9606', 'Species') :: ['patients', 'PATIENTS'] @entity5807 :: ('MESH:D019280', 'Disease') :: ['branchio-oto-renal (BOR) syndrome', 'BOR syndrome'] @entity1887 :: ('MESH:D000309', 'Disease') :: ['caloric hypofunction'] @entity8468 :: ('OMIM:600791', 'Disease') :: ['left vestibular aqueduct'] @entity15902 :: ('MESH:C566366', 'Disease') :: ['enlarged vestibular aqueduct'] @entity1274 :: ('MESH:D006319', 'Disease') :: ['progressive fluctuant sensorineural hearing loss'] @entity389 :: ('MESH:D007759', 'Disease') :: ['inner ear anomalies'] @entity393 :: ('MESH:D034381', 'Disease') :: ['hearing impairment'] @entity427 :: ('MESH:D012021', 'Disease') :: ['hyporeflexia']
@entity5807 :: (MESH:D019280,Disease) :: ['branchio-oto-renal syndrome']
