What is Known:
• Congenital pseudarthrosis of the tibia and neurofibromatosis type 1 are closely related.
• Literature focus is mainly on treatment and little epidemiologic research is available.
What is New:
• Prevalence of neurofibromatosis type 1 in patient with congenital pseudarthrosis of the tibia might be higher than what is reported until now.
• A multidisciplinary approach with meticulous clinical examination and genetic counseling might lead to an earlier diagnosis of neurofibromatosis type 1 in patients with congenital pseudarthrosis of the tibia.