Hypoplasia and dysplasia of the cochlea were consistent findings, and only magnetic resonance imaging was able to evaluate the intracochlear changes in detail and corrected computed tomography in most patients. Moreover, magnetic resonance imaging also detected bilateral hypoplasia of the cochlear branch of the eighth nerve in one patient. A widened vestibular aqueduct and a widened vestibular sac were frequent but not obligatory features of the BOR syndrome. Other malformations of the middle ear included a reduced middle ear cavity and malformations of the ossicular chain.

No abstract

These findings suggest a correlation between progressive fluctuant sensorineural hearing loss with caloric hypofunction and the presence of an enlarged vestibular aqueduct in the BOR syndrome. Additional longitudinal case studies are needed to further evaluate such a correlation.

No abstract

In this report we describe the clinical history and symptoms in a 36‐year‐old male with Hajdu‐Cheney syndrome, an autosomal dominant condition with dissolution of the terminal phalanges (acro‐osteolysis), characteristic craniofacial dysmorphism, and musculoskeletal alterations. He was admitted at that age because of progressive respiratory problems, with Cheyne‐Stokes respiration and bilateral vocal cord paralysis. Terminal renal failure with cystic renal disease was diagnosed at the age of 14 years. The findings in the present patient illustrate the risk of progressive neurologic degeneration with involvement of the cranial nerves in patients with Hajdu‐Cheney syndrome. Moreover, we confirm that cystic renal changes are an integral part of Hajdu‐Cheney syndrome, and agree that Hajdu‐Cheney syndrome and Serpentine fibula syndrome are probably variant examples of the same disease.