Facioscapulohumeral syndrome with sensorineural hearing loss and abnormality of retinal vessels

A 23-year-old man was recognized as a sporadic case of facioscapulohumeral syndrome (FSH syndrome). He was a case of early onset, and there was severe atrophy of skeletal muscles, although muscle biopsy was normal. Electromyogram revealed neurogenic changes. This patient also had severe sensorineural hearing loss and a mild abnormality of retinal vessels. It is known that some FSH dystrophy or FSH spinal muscular atrophy patients have such coincidental complications. The cause of these coincidences is still unclear, but their occurrence suggests the pleiotropy of the FSH syndrome.