Article
Neurofibromatosis presenting with a cherubism phenotype.
European journal of pediatrics - 1 Sept 2007
van Capelle C I, Hogeman P H G, van der Sijs-Bos C J M, Heggelman B G F, Idowu B, Slootweg P J, Wittkampf A R M, Flanagan A M
Abstract excerpt
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...
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