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Medline ® Abstract for Reference 25

of 'Clinical manifestations and evaluation of spontaneous primary ovarian insufficiency (premature ovarian failure)'

25
TI
The Perrault syndrome: clinical report and review.
AU
Nishi Y, Hamamoto K, Kajiyama M, Kawamura I
SO
Am J Med Genet. 1988;31(3):623.
 
We report on two Japanese sisters with Perrault syndrome, i.e., autosomal recessive ovarian dysgenesis associated with sensorineural deafness. They also had ataxic gait, pes equinovarus, nystagmus, limited extraocular movements, and short stature. One older affected sister had partial growth hormone deficiency. Our review included 21 patients from 8 families, including our patients; 16 are women with ovarian dysgenesis and deafness, 3 deaf males without gonadal defect, one a woman with ovarian dysgenesis without deafness, and one a girl with deafness in whom ovarian function was not evaluated. Perrault syndrome may not be uncommon; some cases may have gone unrecognized, especially when a single child in a family is affected.
AD
Department of Pediatrics, Hiroshima Red Cross Hospital, Japan.
PMID