Cephalometry in adults and children with neurofibromatosis type 1: Implications for the pathogenesis of sphenoid wing dysplasia and the "NF1 facies".

@article{Cung2015CephalometryIA,
  title={Cephalometry in adults and children with neurofibromatosis type 1: Implications for the pathogenesis of sphenoid wing dysplasia and the "NF1 facies".},
  author={Winnie Cung and Laura A Freedman and Nicholas E. Khan and Elaine E Romberg and Pamela J. Gardner and Carol W. Bassim and Andrea Michelle Baldwin and Brigitte C Widemann and Douglas R Stewart},
  journal={European journal of medical genetics},
  year={2015},
  volume={58 11},
  pages={
          584-90
        }
}
BACKGROUND Neurofibromatosis type 1 (NF1) is a common, autosomal dominant tumor-predisposition disorder that arises secondary to mutations in the tumor suppressor gene NF1. Cephalometry is an inexpensive, readily available and non-invasive technique that is under-utilized in studying the NF1 craniofacial phenotype. An analysis of NF1 cephalometry was first published by Heervä et al. in 2011. We expand here on that first investigation with a larger cohort of adult and pediatric patients affected… CONTINUE READING
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