scholarly journals Crooked fingers and sparse hair: an interesting case of trichorhinophalangeal syndrome type 1

2015 ◽  
Vol 2015 (jan27 2) ◽  
pp. bcr2014207645-bcr2014207645
Author(s):  
R. Narayanan ◽  
S. Chennareddy
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 ◽  
...  

2020 ◽  
Vol 34 (4) ◽  
pp. 243-245
Author(s):  
Viktoriya Wolfe ◽  
Nachammai R. Chinnakaruppan

Trichorhinophalangeal syndrome (TRPS) Type I is a rare, autosomal dominant genetic syndrome with a spectrum of characteristics affecting hair, craniofacial, and skeletal development. It was first described in 1966 by Giedion based on three main features of sparse hair, bulbous nasal tip, and short deformed fingers. TRPS Type I is generally associated with mutations or microdeletions in the TRPS1 gene on chromosome 8q23.3, with translocations on this chromosomal arm also reported. The prevalence of TRPS Type I is unknown due to varying and subtle presenting features. Approximately 100 cases of TRPS Type I and III and 100 cases of TRPS Type II have been described and published up until 2017. We describe the neonatal course of an infant with TRPS Type I and Trisomy 21, two chromosomal anomalies prenatally diagnosed. To our knowledge, this is the first report of TRPS with Trisomy 21.


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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