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- W2259021856 abstract "We describe two sisters (ages 35 and 30 years, respectively) from a small village in India born out of nonconsanguinous parentage with a unique combination of bilateral congenital sensorineural hearing loss, structural brain anomalies and fibroid uterus. Both had normal psychomotor development and were phenotypically normal. Brain imaging revealed communicating hydrocephalous in one sister and meningioma in the other. While the elder sister had a hearing loss greater than 115dB in the right ear and 120dB in the left, the loss in the younger one was 117.5dB in both ears at 500, 1000 and 2000Hz. Both had in addition had primary infertility and gynaecological evaluation revealed fibroid uterus. The parents and a brother were normal; and had normal brain imaging. The pattern of inheritance is probably autosomal recessive." @default.
- W2259021856 created "2016-06-24" @default.
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- W2259021856 date "2015-02-01" @default.
- W2259021856 modified "2023-09-27" @default.
- W2259021856 title "Bilateral congenital sensorineural deafness, structural brain anomalies and fibroid uterus in two sisters: a new autosomal recessive syndrome?" @default.
- W2259021856 hasPublicationYear "2015" @default.
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