ArticleJournal of medical genetics1998
Minor disease features in neurofibromatosis type 1 (NF1) and their possible value in diagnosis of NF1 in children < or = 6 years and clinically suspected of having NF1. Neurofibromatosis team of Sophia Children's Hospital.
Article in Journal of medical genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 47 citations in OpenAlex.
- Association between neurofibromatosis type 1 and cerebrovascular diseases in children: A systematic review.PloS one · 2021Pooled it
- Neurofibromatosis Type 1 : A General Review.Journal of Korean Neurosurgical Society · 2025Article
- Article
- Neurofibromatosis-Noonan syndrome: a prospective monocentric study of 26 patients and literature review.Orphanet journal of rare diseases · 2025Review
- Disruption of Critical Period Plasticity in a Mouse Model of Neurofibromatosis Type 1.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2020Article
- Neurofibromatosis 1 French national guidelines based on an extensive literature review since 1966.Orphanet journal of rare diseases · 2020Article
- Bilateral and symmetrical anteromedial bowing of the lower limbs in a patient with neurofibromatosis type-I.Case reports in orthopedics · 2015Article
- Pediatric neurofibromatosis 1 and parental stress: a multicenter study.Neuropsychiatric disease and treatment · 2014Article
- Nutraceuticals safety and efficacy in migraine without aura in a population of children affected by neurofibromatosis type I.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2013Article
- Neurofibromatosis type 1 and infantile spasms.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2009Article
- An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation.American journal of human genetics · 2007Article
- Prospective evaluation of the brain in asymptomatic children with neurofibromatosis type 1: relationship of macrocephaly to T1 relaxation changes and structural brain abnormalities.AJNR. American journal of neuroradiology · 2001Article
- Neurofibromatosis: chronological history and current issues.Anais brasileiros de dermatologiaArticle
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo 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.
designDuring 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).
resultsThe 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.
conclusionIn 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.
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