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Apparently new syndrome of sensorineural hearing loss, retinal pigment epithelium lesions, and discolored teeth

✍ Scribed by Innis, Jeffrey W.; Sieving, Paul A.; McMillan, Pamella; Weatherly, Robert A.

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 58 KB
Volume: 75
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19980106)75:1<13::aid-ajmg4>3.0.co;2-r

No coin nor oath required. For personal study only.

✦ Synopsis

We report on a family with early-onset sensorineural hearing loss, abnormal retinal pigment epithelium granularity, accumulation of creamy-white lesions at the level of the retinal pigment epithelium particularly superior to the arcade, and selective discoloration (brown) of molars or canine deciduous teeth that follows an apparent autosomal recessive inheritance pattern. This appears to be a new syndrome that can be distinguished from the known otodental, oculo-acoustic and flecked retina syndromes by the occurrence of distinct dental and ocular abnormalities.

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