Key result
Pendred syndrome may account for up to 7.5% of all cases of childhood deafness and has been brought back into focus following the mapping of its locus to chromosome 7q31.
Highlights the re-emergence of Pendred syndrome as a distinct clinical entity following the mapping of its locus to chromosome 7q31.
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May warrant inclusion in childhood deafness differentials; leaves open precise prevalence estimates pending further studies.
Almost uniquely among syndromic forms of deafness, Pendred syndrome has been the sub- ject of wide ranging epidemiological study in- dicating that it may account for up to 7.5% of all cases of childhood deafness.' Remarkably the condition has been substantially overlooked in recent years. However, the recent mapping of the Pendred locus to chromosome 7q31 and the reporting of locus homogeneity have brought the syndrome back into focus as a distinct clinical entity.23
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Reardon et al. (1996) conducted a review in Pendred syndrome. Pendred syndrome may account for up to 7.5% of all cases of childhood deafness and has been brought back into focus following the mapping of its locus to chromosome 7q31.
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