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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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Autores principales: Thakur, Arpita Rai, Naikmasur, Venkatesh G
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2014
Materias:
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.
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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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