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Am J Med Genet. 1985 Sep;22(1):143-7.

Facioscapulohumeral dystrophy with cochlear hearing loss and tortuosity of retinal vessels.

Abstract

We report on a mother and her three children with facioscapulohumeral dystrophy (FSHD), sensorineural hearing loss, and marked tortuosity of the retinal vessels. Initially the children presented with speech difficulties and hearing deficit. Hearing loss ranged from mild to severe. An audiologic evaluation, including brain stem auditory evoked responses in all patients, indicated a cochlear origin of hearing loss and intact pathways from the cochlea to the temporal lobe. The association of FSHD with hearing loss and tortuosity of the retinal vessels suggests previously unrecognized pleiotropy of FSHD (McKusick 15890) or a "new" type of FSHD.

PMID:
4050849
DOI:
10.1002/ajmg.1320220116
[Indexed for MEDLINE]

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