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01-09-2007 | Original Paper

Neurofibromatosis presenting with a cherubism phenotype

Authors: C. I. van Capelle, P. H. G. Hogeman, C. J. M. van der Sijs-Bos, B. G. F. Heggelman, B. Idowu, P. J. Slootweg, A. R. M. Wittkampf, A. M. Flanagan

Published in: European Journal of Pediatrics | Issue 9/2007

Abstract

We report on a child who presented clinical manifestations of both neurofibromatosis type 1 (NF1) and cherubism. With genetic testing, we found a mutation in the NF-1 gene, confirming the neurocutaneous disorder. Histology when correlated with radiological evaluation of a mandibular biopsy was consistent with cherubism. This is the first report in the literature of a child with proven neurofibromatosis type 1 and cherubism without extragnathic lesions. This emphasises that cherubism is a clinical phenotype that can be associated with a number of germline mutations involving SH3BP2, PTPN11 and NF1.

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Title: Neurofibromatosis presenting with a cherubism phenotype
Authors: C. I. van Capelle
P. H. G. Hogeman
C. J. M. van der Sijs-Bos
B. G. F. Heggelman
B. Idowu
P. J. Slootweg
A. R. M. Wittkampf
A. M. Flanagan
Publication date: 01-09-2007
Publisher: Springer-Verlag
Published in: European Journal of Pediatrics / Issue 9/2007
Print ISSN: 0340-6199
Electronic ISSN: 1432-1076
DOI: https://doi.org/10.1007/s00431-006-0334-6

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Neurofibromatosis presenting with a cherubism phenotype

Abstract

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