PMID: 9450850Feb 5, 1998Paper

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

American Journal of Medical Genetics
J W InnisR A Weatherly

Abstract

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.

Citations

Apr 4, 2000·Journal of Medical Genetics·S Pieke-DahlW J Kimberling
Dec 22, 2006·International Journal of Paediatric Dentistry·Richard Balmer, Stephen A F Fayle
Aug 2, 2011·The Journal of the American Dental Association·Victor Alonso de la Peña, Martín Caserío Valea
Jul 24, 1998·American Journal of Medical Genetics·J Zlotogora

❮ Previous
Next ❯

Related Concepts

Related Feeds

Auditory Perception

Auditory perception is the ability to receive and interpret information attained by the ears. Here is the latest research on factors and underlying mechanisms that influence auditory perception.

Related Papers

General Dentistry
A J Mesaros, J W Basden
International Journal of Oral and Maxillofacial Surgery
L Van DoorneP Deron
Orphanet Journal of Rare Diseases
Agnès Bloch-Zupan, Jane R Goodman
The British Journal of Ophthalmology
S J CharlesL Willatt
© 2021 Meta ULC. All rights reserved