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Post- axial polydactyly A and delayed puberty in a female African patient with neurofibromatosis type 1: Case report


MP Shongo
TK Lubala
O Mukuku
ON Luboya
PT Lukusa

Abstract

Hand and foot polydactyly is a finding that has been rarely reported in neurofibromatosis type I. To the best of our knowledge, about eight patients have been described to date with polydactyly associated to neurofibromatosis. Here we report on a 14-year-old girl with non familial bilateral and symmetrical postaxial polydactyly, delayed puberty and neurofibromatosis type 1.The occurrence of post-axial polydactyly type A in NF1 patients appears to be not a fortuitous event, but well a possible feature of NF1 mutation.


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eISSN: 0012-835X