TY - JOUR
T1 - Apparently new syndrome of sensorineural hearing loss, retinal pigment epithelium lesions, and discolored teeth
AU - Innis, Jeffrey W.
AU - Sieving, Paul A.
AU - McMillan, Pamella
AU - Weatherly, Robert A.
PY - 1998/1/6
Y1 - 1998/1/6
N2 - 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.
AB - 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.
KW - Autosomal recessive
KW - Delay in tooth eruption
KW - Discolored enamel
KW - Retinal pigment epithelium
KW - Sensorineural hearing loss
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U2 - 10.1002/(SICI)1096-8628(19980106)75:1<13::AID-AJMG4>3.0.CO;2-R
DO - 10.1002/(SICI)1096-8628(19980106)75:1<13::AID-AJMG4>3.0.CO;2-R
M3 - Article
C2 - 9450850
AN - SCOPUS:0031974523
VL - 75
SP - 13
EP - 17
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
SN - 1552-4825
IS - 1
ER -