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Robinow Syndrome: A Rare Case Report and Review of Literature

Robinow syndrome is an extremely rare genetic disorder. Short-limbed dwarfism, abnormalities in the head, face, and external genitalia, as well as vertebral defects comprise its distinct features. This disorder exists in dominant and recessive patterns. Patients with the dominant pattern exhibit mod...

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Detalles Bibliográficos
Autores principales: Soman, Cristalle, Lingappa, Ashok
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Jaypee Brothers Medical Publishers 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4562051/
https://www.ncbi.nlm.nih.gov/pubmed/26379386
http://dx.doi.org/10.5005/jp-journals-10005-1303
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author Soman, Cristalle
Lingappa, Ashok
author_facet Soman, Cristalle
Lingappa, Ashok
author_sort Soman, Cristalle
collection PubMed
description Robinow syndrome is an extremely rare genetic disorder. Short-limbed dwarfism, abnormalities in the head, face, and external genitalia, as well as vertebral defects comprise its distinct features. This disorder exists in dominant and recessive patterns. Patients with the dominant pattern exhibit moderate symptoms. More physical characteristics and skeletal abnormalities characterize the recessive group. The syndrome is also known as Robinow-Silverman-Smith syndrome, Robinow dwarfism, fetal face, fetal face syndrome, fetal facies syndrome, acral dysostosis with facial and genital abnormalities, or mesomelic dwarfism-small genitalia syndrome. Covesdem syndrome was the name entitled for the recessive form previously. Here, we report a case of 8-year-old female with a autosomal recessive Robinow syndrome having skeletal and vertebral defects. How to cite this article: Soman C, Lingappa A. Robinow Syndrome: A Rare Case Report and Review of Literature. Int J Clin Pediatr Dent 2015;8(2):149-152.
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spelling pubmed-45620512015-09-14 Robinow Syndrome: A Rare Case Report and Review of Literature Soman, Cristalle Lingappa, Ashok Int J Clin Pediatr Dent Case Report Robinow syndrome is an extremely rare genetic disorder. Short-limbed dwarfism, abnormalities in the head, face, and external genitalia, as well as vertebral defects comprise its distinct features. This disorder exists in dominant and recessive patterns. Patients with the dominant pattern exhibit moderate symptoms. More physical characteristics and skeletal abnormalities characterize the recessive group. The syndrome is also known as Robinow-Silverman-Smith syndrome, Robinow dwarfism, fetal face, fetal face syndrome, fetal facies syndrome, acral dysostosis with facial and genital abnormalities, or mesomelic dwarfism-small genitalia syndrome. Covesdem syndrome was the name entitled for the recessive form previously. Here, we report a case of 8-year-old female with a autosomal recessive Robinow syndrome having skeletal and vertebral defects. How to cite this article: Soman C, Lingappa A. Robinow Syndrome: A Rare Case Report and Review of Literature. Int J Clin Pediatr Dent 2015;8(2):149-152. Jaypee Brothers Medical Publishers 2015 2015-08-11 /pmc/articles/PMC4562051/ /pubmed/26379386 http://dx.doi.org/10.5005/jp-journals-10005-1303 Text en Copyright © 2015; Jaypee Brothers Medical Publishers (P) Ltd. This work is licensed under a Creative Commons Attribution 3.0 Unported License. To view a copy of this license, visit http://creativecommons.org/licenses/by/3.0/
spellingShingle Case Report
Soman, Cristalle
Lingappa, Ashok
Robinow Syndrome: A Rare Case Report and Review of Literature
title Robinow Syndrome: A Rare Case Report and Review of Literature
title_full Robinow Syndrome: A Rare Case Report and Review of Literature
title_fullStr Robinow Syndrome: A Rare Case Report and Review of Literature
title_full_unstemmed Robinow Syndrome: A Rare Case Report and Review of Literature
title_short Robinow Syndrome: A Rare Case Report and Review of Literature
title_sort robinow syndrome: a rare case report and review of literature
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4562051/
https://www.ncbi.nlm.nih.gov/pubmed/26379386
http://dx.doi.org/10.5005/jp-journals-10005-1303
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