Perrault's syndrome in two sisters.
We report on two sisters with Perrault's syndrome, i.e., autosomal recessive ovarian dysgenesis associated with sensorineural deafness. They were deaf-mute and of normal height with a few minor somatic anomalies. Both had streak gonads and an apparently normal female 46,XX chromosome constitution. The parents were apparently not consanguineous. The mother had normal hearing. Other relatives were not available for study. Epilepsy, which occurred in three relatives including one of the index patients, may have been inherited coincidentally from the mother's family.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D003638:Deafness / Q000235:genetics*; D003878:Dermatoglyphics; D005260:Female; D005808:Genes, Recessive; D006059:Gonadal Dysgenesis / Q000235:genetics*; D006801:Humans; D013577:Syndrome