Abstract
A case of Revesz syndrome
Highlights
Classical features of Revesz syndrome (RS) include skin pigmentation, nail dystrophy, oral leukoplakia, cerebellar hypoplasia, growth retardation and delayed psychomotor development[1]
Since several case reports have been published in the literature but no cases were reported from Sri Lanka
In RS there is a heterozygous mutation in TRF1interacting nuclear factor-2 part of the shelterin telomere protection complex resulting in a short telomere length[3]
Summary
Classical features of Revesz syndrome (RS) include skin pigmentation, nail dystrophy, oral leukoplakia, cerebellar hypoplasia, growth retardation and delayed psychomotor development[1]. Dual energy x-ray absorptiometry (DXA) showed
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