Article

Case Report: Aggressive Tibial Pseudarthrosis as Primary Symptom in Infant with Neurofibromatosis

2016-07-27

Abstract excerpt

Neurofibromatosis (NF1) is a rare genetic neurological disorder with over 30 distinct clinical manifestations, the top 3 of which include cafe-au-lait spotting, benign tumors and abnormal freckling. Pseudarthrosis (PA), also known as a false joint, is a rare subset of NF1 symptomology, characterized by bone fractures and nonunion caused by severe bowing of long bones. To date, it is invariably reported as secondar...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 70cd289e-78c6-529c-ae7c-401c2a96351b
DOI: 10.1101/066316

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Case Report: Aggressive Tibial Pseudarthrosis as Primary Symptom in Infant with NeurofibromatosisDOI 10.1101/066316Read

Identification and characterization of NF1 and non-NF1 congenital pseudarthrosis of the tibia based on germline NF1 variants: genetic and clinical analysis of 75 patientsSemantic proximity Read

Neurofibromatosis 1 in childhood.Semantic proximity Read

Novel phenotypes of NF1 patients from unrelated Chinese families with tibial pseudarthrosis and anemia.Semantic proximity Read

Unraveling the Molecular Landscape of Congenital Pseudoarthrosis of the Tibia: Insights from a Comprehensive Analysis of 162 ProbandsSemantic proximity Read

Neurofibromatosis 1 in the setting of dual diagnosis: Diagnostic and management conundrumsSemantic proximity Read

Identification of One <em>BOCR</em> Mutation and Five <em>NF1</em> Mutations in Male Patients with Neurofibromatosis Type 1 and Congenital Pseudarthrosis of the TibiaSemantic proximity Read

Phenotypic heterogeneity of neurofibromatosis type 1 in a large international registry.Semantic proximity Read

Neurofibromatosis type I: points to be considered by general pediatriciansSemantic proximity Read

[Neurofibromatosis--an inborn genetic disorder with susceptibility to neoplasia].Semantic proximity Read

Genetically confirmed coexistence of neurofibromatosis type 1 and Cherubism in a pediatric patient.Semantic proximity Read

Whole-genome sequencing in Brazilian patients with neurofibromatosis type 1, including novel variants, incidental findings, and dual diagnoses.Semantic proximity Read

Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants.Semantic proximity Read