The clinical presentation of facioscapulohumeral dystrophy (FSHD) with unusual large 4q35 deletions was studied with attention to hearing loss. Hearing function was examined by otoscopy, audiometry and auditory-evoked brainstem responses. Data obtained from 6 patients with EcoRI 4q35 fragment size, ranging from 10 to 13 kb, were compared with those of 28 similar subjects reported in the literature. Sensorineural hearing loss occurred in 4 patients who had an infantile-onset dystrophic phenotype. Hearing loss was associated with mental retardation in 3 and epilepsy in 2. Hearing was mildly impaired in the remaining 2 of 6 patients. When the data from 28 similar cases reported in the literature were combined with that from the 6 patients examined, 68% had auditory impairment. Hearing loss is a characteristic feature of FSHD patients with a large 4q35 deletion. When considering only cases with 10-11 kb fragment size, FSHD is associated with early-onset dystrophic phenotype, mental retardation in 92% and epilepsy in 58%. 
COMMENT. Facioscapulohumeral dystrophy with sensorineural hearing loss and Coats’ syndrome was described by Taylor DA et al . Coats’ syndrome includes congenital retinal dysgenesis with telangiectasia and retinal detchment. A PubMed search of the literature found 8 reports of FSHD and sensorineural deafness, dating from 2008 to 1985. One case with epilepsy was complicated by infantile spasms at 6 months of age, the dystrophy presenting at 3 years, and sensorineural deafness noted later . All 6 patients reported with facial diplegia in the first year of life and subsequent development of FSHD had sensorineural deafness.