title: Short mandible, maxilla and cranial base are common in patients with neurofibromatosis 1.
abstract: Neurofibromatosis type 1 (NF1) is an autosomal-dominant neuro-cutaneous-skeletal syndrome. Neurofibromatosis type 1 is one of the Rasopathies, and at the cellular level NF1 results in a hyperactive Ras pathway. In the current investigation, our aim was to study lateral skull X-rays (cephalograms) to assess NF1-related craniofacial morphology. A total of 85 Finnish patients with NF1, including four patients with plexiform neurofibroma of the 5th cranial nerve, and their age- and gender-matched controls, were enrolled in the study. The results showed that patients with NF1 typically had a short mandible, maxilla, and cranial base compared with healthy controls, irrespective of age, but the results were statistically significant only in adults. The length of the mandible, the maxilla and the cranial base correlated with the height of patients under 19 yr of age, but this correlation was absent in adult patients. Thus, a tall adult patient with NF1 may have short jaws and a short cranial base. In conclusion, the NF1 gene apparently influences the growth of craniofacial bones, thus contributing to the craniofacial morphology in NF1.
authors.affiliation: Department of Cell Biology and Anatomy, University of Turku, Kiinamyllynkatu, Finland.
authors.forename: Eetu
authors.initials: E
authors.lastname: Heervä
authors.forename: Sirkku
authors.initials: S
authors.lastname: Peltonen
authors.forename: Pertti
authors.initials: P
authors.lastname: Pirttiniemi
authors.forename: Risto-Pekka
authors.initials: RP
authors.lastname: Happonen
authors.forename: Vivian
authors.initials: V
authors.lastname: Visnapuu
authors.forename: Juha
authors.initials: J
authors.lastname: Peltonen
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D016022:Case-Control Studies; D002648:Child; D019465:Craniofacial Abnormalities / Q000145:classification / Q000150:complications*; D005260:Female; D006801:Humans; D008297:Male; D008334:Mandible / Q000002:abnormalities* / Q000033:anatomy & histology; D016555:Matched-Pair Analysis; D008437:Maxilla / Q000002:abnormalities* / Q000033:anatomy & histology; D008875:Middle Aged; D017253:Neurofibromatoses / Q000145:classification / Q000150:complications*; D012016:Reference Values; D019291:Skull Base / Q000002:abnormalities* / Q000033:anatomy & histology; D055815:Young Adult