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Head and neck manifestations of neurofibromatosis
Journal article   Peer reviewed

Head and neck manifestations of neurofibromatosis

Ann K White, Richard J. H Smith, C Robert Bigler, William F Brooke and Philip R Schauer
The Laryngoscope, Vol.96(7), pp.732-737
07/1986
DOI: 10.1288/00005537-198607000-00005
PMID: 3088347

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Abstract

Neurofibromatosis is a neurocutaneous systemic disease that occurs in 1:2500 to 3300 live births. Prevalence figures have shown it to be as common as cystic fibrosis or Down's syndrome and more than twice as common as muscular dystrophy. In this study, our experience with 257 cases of neurofibromatosis seen since 1972 is reviewed. Intracranial, bony, and extracranial anomalies are described in the 223 patients (87%) who presented with, or ultimately developed, head and neck manifestations of the disease. The most common intracranial tumor was optic glioma, found in 35 patients (14%), 19 younger than 10 years of age. Acoustic neuromas were diagnosed in eight individuals (3%) and were bilateral in three. The most common skull anomaly was macrocephaly, noted 78 times (30%). Absence of the sphenoid wing occurred in 11 patients (4%) and 19 others (7%) had facial asymmetry due to other skull abnormalities. Extracranial manifestations included neurofibromas of the plexiform and nonplexiform type, Lisch nodules, and cafe‐au‐lait spots.

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