✦ LIBER ✦

46,XX gonadal dysgenesis with epibulbar dermoid

✍ Scribed by Quayle, Sara A. ;Copeland, Kenneth C.

Publisher: John Wiley and Sons
Year: 1991
Tongue: English
Weight: 245 KB
Volume: 40
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320400114

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✦ Synopsis

Pure gonadal dysgenesis with 46,XX genotype is a rare abnormality with unknown etiology. Although sensorineural deafness has been described with 46,XX gonadal dysgenesis, the majority of reported cases of 46,XX gonadal dysgenesis have no associated physical abnormalities. We report a patient with 46,XX gonadal dysgenesis associated with epibulbar dermoids and preauricular skin tags, the classic ocular and skin manifestations of Goldenhar sequence (oculoauricular vertebral dysplasia). We propose that our patient may represent a new and previously unreported syndrome.

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