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.

Cataract

A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.


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PMID (PMCID)
23332201
FEMALE
Genotype and phenotype heterogeneity in perrault syndrome.
Kim MJ, Kim SJ, Kim J, Chae H, Kim M, Kim Y.
J Pediatr Adolesc Gynecol. 2013;26(1):e25-7.
We report a 15-year-old girl with gonadal dysgenesis, unilateral sensorineural deafness, cataracts in both eyes, and Marfanoid body proportions diagnosed Perrault syndrome.