Facioscapulohumeral dystrophy associated with mental retardation, hearing loss, and tortuosity of retinal arterioles.
A rare case of facioscapulohumeral muscular dystrophy with an early onset and progression is described. The patient had mental retardation, sensorineural hearing loss, and marked tortuosity of the retinal arterioles. On reviewing previous reports of related cases, our case and those of Small shared similar clinical manifestations, although the retinal findings in our patient were different from the typical Coats' disease of Small's patients. However, we postulate that these cases represent a specific nosological entity, although genetic transmission has yet to be proven.
D002648:Child; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000150:complications*; D006801:Humans; D008607:Intellectual Disability / Q000150:complications*; D009136:Muscular Dystrophies / Q000150:complications* / Q000235:genetics; D012161:Retinal Artery; D012164:Retinal Diseases / Q000150:complications; D013577:Syndrome