title: Pseudarthrosis of the tibia: emergency department presentation of neurofibromatosis type 1 in a 4-month-old infant.
abstract: Congenital pseudarthrosis of the tibia is a complex and rare condition of infancy. Long bone pseudarthrosis is strongly linked to neurofibromatosis, a common genetic disorder in which pseudarthrosis tends to occur early. This report describes a similar emergency department presentation in a 4-month-old infant with subsequent diagnosis of neurofibromatosis type 1.
authors.affiliation: Nottingham City Hospital NHS Trust, East Midlands North Deanery, Nottingham, UK. reshidb@gmail.com
authors.forename: R
authors.initials: R
authors.lastname: Berber
authors.forename: O
authors.initials: O
authors.lastname: Berber
authors.forename: N
authors.initials: N
authors.lastname: Taguri
authors.forename: R
authors.initials: R
authors.lastname: Sekhar Maroju
authors.forename: S
authors.initials: S
authors.lastname: Abdulla
mesh_terms: D004636:Emergency Service, Hospital; D006801:Humans; D007223:Infant; D008297:Male; D009456:Neurofibromatosis 1 / Q000150:complications* / Q000175:diagnosis; D011542:Pseudarthrosis / Q000151:congenital / Q000000981:diagnostic imaging / Q000209:etiology*; D011859:Radiography; D013977:Tibia / Q000000981:diagnostic imaging*