scholarly journals Trichorhinophalangeal syndrome type 1 and 3

2020 ◽  
Author(s):  
2018 ◽  
Vol 44 (1) ◽  
Author(s):  
Giulia Trippella ◽  
Paolo Lionetti ◽  
Sara Naldini ◽  
Francesca Peluso ◽  
Matteo Della Monica ◽  
...  

2012 ◽  
Vol 3 (2) ◽  
pp. 209 ◽  
Author(s):  
Ramesh Candamourty ◽  
Suresh Venkatachalam ◽  
B Karthikeyan ◽  
MR Ramesh Babu

2012 ◽  
pp. 339-341
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
Sheila Unger

Chapter 73 covers trichorhinophalangeal syndrome, Type 1 (MIM 190350), including major clinical findings, radiographic features, and differential diagnoses.


2021 ◽  
Vol 4 (1) ◽  
Author(s):  
Andrade Rodrigo Soares de ◽  
Gonçalves Juliana de Lima ◽  
Fonseca Cláudia de Alvarenga Diniz ◽  
Taburini Adriana Boeri Freire ◽  
Gomes Heloisa de Sousa ◽  
...  

2006 ◽  
Vol 11 (2) ◽  
pp. 1-3, 9-12
Author(s):  
Robert J. Barth ◽  
Tom W. Bohr

Abstract From the previous issue, this article continues a discussion of the potentially confusing aspects of the diagnostic formulation for complex regional pain syndrome type 1 (CRPS-1) proposed by the International Association for the Study of Pain (IASP), the relevance of these issues for a proposed future protocol, and recommendations for clinical practice. IASP is working to resolve the contradictions in its approach to CRPS-1 diagnosis, but it continues to include the following criterion: “[c]ontinuing pain, which is disproportionate to any inciting event.” This language only perpetuates existing issues with current definitions, specifically the overlap between the IASP criteria for CRPS-1 and somatoform disorders, overlap with the guidelines for malingering, and self-contradiction with respect to the suggestion of injury-relatedness. The authors propose to overcome the last of these by revising the criterion: “[c]omplaints of pain in the absence of any identifiable injury that could credibly account for the complaints.” Similarly, the overlap with somatoform disorders could be reworded: “The possibility of a somatoform disorder has been thoroughly assessed, with the results of that assessment failing to produce any consistencies with a somatoform scenario.” The overlap with malingering could be addressed in this manner: “The possibility of malingering has been thoroughly assessed, with the results of that assessment failing to produce any consistencies with a malingering scenario.” The article concludes with six recommendations, and a sidebar discusses rating impairment for CRPS-1 (with explicit instructions not to use the pain chapter for this purpose).


2006 ◽  
Vol 19 (2) ◽  
pp. 213
Author(s):  
Tae Kyu Park ◽  
Kyung Ream Han ◽  
Dong Wook Shin ◽  
Young Joo Lee ◽  
Chan Kim

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