OBJECTIVE: To establish the frequency of minor disease features in children with neurofibromatosis type 1 (NF1) and to evaluate the value of minor disease features in children < or = 6 years with a suspected diagnosis of NF1, considering that the disease is virtually 100% penetrant at 6 years of age. DESIGN: During this 10 year, prospective, multidisciplinary, follow up study, 209 children suspected of having NF1 were examined; 150 were diagnosed with NF1 and 59 were not. The present analysis included children in whom NF1 was considered to be present at 6 years of age (n=85) and children without NF1 at 6 years of age (n=42). RESULTS: The minor disease features macrocephaly (52.9%), short stature (24.7%), hypertelorism (63.5%), and thorax abnormalities (37.6%) were highly prevalent in children with NF1 and significantly associated with a diagnosis of NF1 at 6 years of age. In addition, the mean number of minor disease features was significantly higher in children with NF1 at 6 years of age compared to the group without a diagnosis at 6 years of age (mean 1.8 v 0.8, p<0.001). Moreover, children with three or more minor disease features were all diagnosed with NF1 under the age of 6 years. Multivariate analysis using a logistic regression model showed that macrocephaly, short stature, hypertelorism, and thorax abnormalities were all independently associated with the presence of NF1 at 6 years of age. CONCLUSION: In children with insufficient diagnostic criteria aged < or = 6 years, documentation of minor disease features may be a helpful aid in predicting the diagnosis of NF1 in years to come.
OBJECTIVE: To establish the frequency of minor disease features in children with neurofibromatosis type 1 (NF1) and to evaluate the value of minor disease features in children < or = 6 years with a suspected diagnosis of NF1, considering that the disease is virtually 100% penetrant at 6 years of age. DESIGN: During this 10 year, prospective, multidisciplinary, follow up study, 209 children suspected of having NF1 were examined; 150 were diagnosed with NF1 and 59 were not. The present analysis included children in whom NF1 was considered to be present at 6 years of age (n=85) and children without NF1 at 6 years of age (n=42). RESULTS: The minor disease features macrocephaly (52.9%), short stature (24.7%), hypertelorism (63.5%), and thorax abnormalities (37.6%) were highly prevalent in children with NF1 and significantly associated with a diagnosis of NF1 at 6 years of age. In addition, the mean number of minor disease features was significantly higher in children with NF1 at 6 years of age compared to the group without a diagnosis at 6 years of age (mean 1.8 v 0.8, p<0.001). Moreover, children with three or more minor disease features were all diagnosed with NF1 under the age of 6 years. Multivariate analysis using a logistic regression model showed that macrocephaly, short stature, hypertelorism, and thorax abnormalities were all independently associated with the presence of NF1 at 6 years of age. CONCLUSION: In children with insufficient diagnostic criteria aged < or = 6 years, documentation of minor disease features may be a helpful aid in predicting the diagnosis of NF1 in years to come.
Authors: M H Cnossen; F J Smit; A de Goede-Bolder; P G Frets; H J Duivenvoorden; M F Niermeijer Journal: Eur J Pediatr Date: 1997-06 Impact factor: 3.183
Authors: R M Cawthon; R Weiss; G F Xu; D Viskochil; M Culver; J Stevens; M Robertson; D Dunn; R Gesteland; P O'Connell Journal: Cell Date: 1990-07-13 Impact factor: 41.582
Authors: D Viskochil; A M Buchberg; G Xu; R M Cawthon; J Stevens; R K Wolff; M Culver; J C Carey; N G Copeland; N A Jenkins Journal: Cell Date: 1990-07-13 Impact factor: 41.582
Authors: Mariska van Lier; M Hadi Saiepour; Koen Kole; Juliette E Cheyne; Nawal Zabouri; Thomas Blok; Yi Qin; Emma Ruimschotel; J Alexander Heimel; Christian Lohmann; Christiaan N Levelt Journal: J Neurosci Date: 2020-06-11 Impact factor: 6.167
Authors: R G Steen; J S Taylor; J W Langston; J O Glass; V R Brewer; W E Reddick; R Mages; E K Pivnick Journal: AJNR Am J Neuroradiol Date: 2001-05 Impact factor: 3.825
Authors: M Upadhyaya; S M Huson; M Davies; N Thomas; N Chuzhanova; S Giovannini; D G Evans; E Howard; B Kerr; S Griffiths; C Consoli; L Side; D Adams; M Pierpont; R Hachen; A Barnicoat; H Li; P Wallace; J P Van Biervliet; D Stevenson; D Viskochil; D Baralle; E Haan; V Riccardi; P Turnpenny; C Lazaro; L Messiaen Journal: Am J Hum Genet Date: 2006-12-08 Impact factor: 11.025
Authors: Beatriz Barreto-Duarte; Fabiana H Andrade-Gomes; María B Arriaga; Mariana Araújo-Pereira; Juan Manuel Cubillos-Angulo; Bruno B Andrade Journal: PLoS One Date: 2021-01-04 Impact factor: 3.240