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Perrault syndrome

Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit.

Sensorineural hearing impairment

A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.

Total: 1

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PMID (PMCID)
18241061	FEMALE	Adult
	Perrault syndrome: report of four new cases, review and exclusion of candidate genes.
	Marlin S, Lacombe D, Jonard L, Leboulanger N, Bonneau D, Goizet C, de Villemeur TB, Cabrol S, Houang M, Moatti L, Feldmann D, Denoyelle F. Am J Med Genet A. 2008;146A(5):661-4.
	We report on two sporadic and two familial new cases with sensorineural hearing impairment and ovarian dysgenesis which are the cardinal signs of Perrault syndrome in females.