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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...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Jaypee Brothers Medical Publishers
2015
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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. |
format | Online Article Text |
id | pubmed-4562051 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2015 |
publisher | Jaypee Brothers Medical Publishers |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT somancristalle robinowsyndromeararecasereportandreviewofliterature AT lingappaashok robinowsyndromeararecasereportandreviewofliterature |