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A case of Robinow-Sorauf syndrome (Craniosynostosis-Bifid Hallux Syndrome): The allelic variant of the Saethre-Chotzen syndrome
The clinical classification of Robinow-Sorauf syndrome has changed over the last few decades. Robinow-Sorauf syndrome is characterized by facies similar to those of Saethre-Chotzen syndrome with bifid or partially duplicated halluces. The current outlook is that the ‘Robinow-Sorauf’ families are exa...
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Medknow Publications & Media Pvt Ltd
2014
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4184321/ https://www.ncbi.nlm.nih.gov/pubmed/25565733 http://dx.doi.org/10.4103/0975-962X.135276 |
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author | Thakur, Arpita Rai Naikmasur, Venkatesh G |
author_facet | Thakur, Arpita Rai Naikmasur, Venkatesh G |
author_sort | Thakur, Arpita Rai |
collection | PubMed |
description | The clinical classification of Robinow-Sorauf syndrome has changed over the last few decades. Robinow-Sorauf syndrome is characterized by facies similar to those of Saethre-Chotzen syndrome with bifid or partially duplicated halluces. The current outlook is that the ‘Robinow-Sorauf’ families are examples of variable expression of the TWIST mutant phenotype and that the ‘Robinow-Sorauf’ syndrome lies within the spectrum of the Saethre-Chotzen syndrome. We present a case of 19-year-old female patient exhibiting classical clinical and radiological features of Robinow-Sorauf phenotype of Saethre-Chotzen syndrome. A brief review of previously reported cases and nosology has been presented. |
format | Online Article Text |
id | pubmed-4184321 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2014 |
publisher | Medknow Publications & Media Pvt Ltd |
record_format | MEDLINE/PubMed |
spelling | pubmed-41843212014-11-17 A case of Robinow-Sorauf syndrome (Craniosynostosis-Bifid Hallux Syndrome): The allelic variant of the Saethre-Chotzen syndrome Thakur, Arpita Rai Naikmasur, Venkatesh G Indian J Dent Case Report The clinical classification of Robinow-Sorauf syndrome has changed over the last few decades. Robinow-Sorauf syndrome is characterized by facies similar to those of Saethre-Chotzen syndrome with bifid or partially duplicated halluces. The current outlook is that the ‘Robinow-Sorauf’ families are examples of variable expression of the TWIST mutant phenotype and that the ‘Robinow-Sorauf’ syndrome lies within the spectrum of the Saethre-Chotzen syndrome. We present a case of 19-year-old female patient exhibiting classical clinical and radiological features of Robinow-Sorauf phenotype of Saethre-Chotzen syndrome. A brief review of previously reported cases and nosology has been presented. Medknow Publications & Media Pvt Ltd 2014 /pmc/articles/PMC4184321/ /pubmed/25565733 http://dx.doi.org/10.4103/0975-962X.135276 Text en Copyright: © Indian Journal of Dentistry http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Thakur, Arpita Rai Naikmasur, Venkatesh G A case of Robinow-Sorauf syndrome (Craniosynostosis-Bifid Hallux Syndrome): The allelic variant of the Saethre-Chotzen syndrome |
title | A case of Robinow-Sorauf syndrome (Craniosynostosis-Bifid Hallux Syndrome): The allelic variant of the Saethre-Chotzen syndrome |
title_full | A case of Robinow-Sorauf syndrome (Craniosynostosis-Bifid Hallux Syndrome): The allelic variant of the Saethre-Chotzen syndrome |
title_fullStr | A case of Robinow-Sorauf syndrome (Craniosynostosis-Bifid Hallux Syndrome): The allelic variant of the Saethre-Chotzen syndrome |
title_full_unstemmed | A case of Robinow-Sorauf syndrome (Craniosynostosis-Bifid Hallux Syndrome): The allelic variant of the Saethre-Chotzen syndrome |
title_short | A case of Robinow-Sorauf syndrome (Craniosynostosis-Bifid Hallux Syndrome): The allelic variant of the Saethre-Chotzen syndrome |
title_sort | case of robinow-sorauf syndrome (craniosynostosis-bifid hallux syndrome): the allelic variant of the saethre-chotzen syndrome |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4184321/ https://www.ncbi.nlm.nih.gov/pubmed/25565733 http://dx.doi.org/10.4103/0975-962X.135276 |
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