Neurofibromatosis type 1 (NF1) associated congenital pseudarthrosis of the Tibia and Fibula misdiagnosed as non-accidental injury (NAI)

2017 ◽  
Author(s):  
M Zulf Mughal ◽  
Farhan Ali ◽  
Rui Santos ◽  
Grace Vassallo ◽  
Siobhan West ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Accidental Injury ◽  
Congenital Pseudarthrosis ◽  
Non Accidental Injury

scholarly journals Biologic Characteristics of Fibrous Hamartoma from Congenital Pseudarthrosis of the Tibia Associated with Neurofibromatosis Type 1

2008 ◽  
Vol 90 (12) ◽  
pp. 2735-2744 ◽  
Author(s):  
Tae-Joon Cho ◽  
Joong-Bae Seo ◽  
Hye Ran Lee ◽  
Won Joon Yoo ◽  
Chin Youb Chung ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Congenital Pseudarthrosis

Congenital pseudarthrosis of neurofibromatosis type 1: Impaired osteoblast differentiation and function and altered NF1 gene expression

Bone ◽  
2009 ◽  
Vol 44 (2) ◽  
pp. 243-250 ◽  
Author(s):  
Hannu-Ville Leskelä ◽  
Tommi Kuorilehto ◽  
Juha Risteli ◽  
Jussi Koivunen ◽  
Marja Nissinen ◽  
...  
Keyword(s):  
Gene Expression ◽  
Neurofibromatosis Type 1 ◽  
Osteoblast Differentiation ◽  
Neurofibromatosis Type ◽  
Congenital Pseudarthrosis ◽  
Nf1 Gene ◽  
And Function

Congenital pseudarthrosis of the ulna and radius in two cases of neurofibromatosis type 1

2001 ◽  
Vol 17 (2-3) ◽  
pp. 239-241 ◽  
Author(s):  
G. P. Ramelli ◽  
T. Slongo ◽  
H. Tsch�ppeler ◽  
J. Weis
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Congenital Pseudarthrosis

Hamartoma Involving the Pseudarthrosis Site in Patients with Neurofibromatosis Type 1

2005 ◽  
Vol 8 (2) ◽  
pp. 190-196 ◽  
Author(s):  
Rocío P. Mariaud-Schmidt ◽  
Sergio Rosales-Quintana ◽  
Emilio Bitar ◽  
Daniel Fajardo ◽  
Gilberto Chiapa-Robles ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Fibrous Tissue ◽  
Neurofibromatosis Type ◽  
Clinical Effects ◽  
Long Bones ◽  
Male And Female ◽  
Congenital Pseudarthrosis ◽  
First Time ◽  
Exact Origin

Congenital pseudarthrosis is a rare disease with variable clinical effects. The disease remains 1 of the most controversial pediatric entities in terms of etiopathogenesis, therapy, and prognosis. Between 0.5% and 2.2% of patients with neurofibromatosis demonstrate pseudarthrosis in any of the long bones. The exact origin of the lesion is even unclear; although several attempts have been made to determine the type of tissue involving the pseudarthrosis site, only fibrous tissue has been documented in different reports. We present 2 unrelated Mexican patients (male and female) with familial neurofibromatosis and congenital pseudarthrosis of the tibia and fibula. Histochemical and immunostain studies after surgical resection of the affected ends from the pseudarthrosis site of both patients showed a picture compatible with hamartoma. This is the first time when histologic evidence of hamartomatous tissue involving the pseudarthrosis site is presented.

Prevalence of neurofibromatosis type 1 in congenital pseudarthrosis of the tibia

2016 ◽  
Vol 175 (9) ◽  
pp. 1193-1198 ◽  
Author(s):  
Van Royen Kjell ◽  
Brems Hilde ◽  
Legius Eric ◽  
Lammens Johan ◽  
Laumen Armand
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Congenital Pseudarthrosis

scholarly journals Erratum to: Prevalence of neurofibromatosis type 1 in congenital pseudarthrosis of the tibia

2017 ◽  
Vol 176 (7) ◽  
pp. 993-993 ◽  
Author(s):  
Kjell Van Royen ◽  
Hilde Brems ◽  
Eric Legius ◽  
Johan Lammens ◽  
Armand Laumen
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Congenital Pseudarthrosis
Sign in / Sign up

Export Citation Format

Share Document