Polydactyly in neurofibromatosis type I: a potential clue to diagnosis

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" Polydactyly in neurofibromatosis type I: a potential clue to diagnosis "
Kimes, Kate L; Han, Marie J; Brown, Patrick J

Document Type	:	AL
Record Number	:	925242
Doc. No	:	LA0mw2g28q
Language of Document	:	English
Main Entry	:	Kimes, Kate L; Han, Marie J; Brown, Patrick J
Title & Author	:	Polydactyly in neurofibromatosis type I: a potential clue to diagnosis [Article]\ Kimes, Kate L; Han, Marie J; Brown, Patrick J
Title of Periodical	:	Dermatology Online Journal
Volume/ Issue Number	:	22/11
Date	:	2016
Abstract	:	Neurofibromatosis type 1 is a genetic disorder characterized by variable phenotypic manifestations. The diagnostic criteria, 25 established in 1987, are broad to encompass these pleiotropic findings. Included are the specific osseous manifestations of 26 sphenoid dysplasia and dysplasia or thinning of the cortex of long bones. This review highlights recent evidence on the role of 27 neurofibromin in bone development and suggests consideration for additional diagnostic criteria.