Facioscapulohumeral dystrophy presenting in infancy with facial diplegia and sensorineural deafness

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Abstract
Six patients are described in whom facial diplegia occured in the first year of life, with subsequent development of facioscapulohumeral dystrophy. All had severe proggressive disability prior to adolescence. Facial involvement did not include extraucular muscles. All six patients had a sensorineural hearing loss. Evidence of a mildly affected parent was found in three families. Progressive and severe facioscapulohumeral dystrophy accompanied by facial diplegia and sensorineural hearing loss may represent a separate genetic form of facioscapulohumeral dystrophy.