Crouzon Syndrome: Clinico-Radiological Illustration of a Case

Crouzon syndrome, also called craniofacial dysostosis, is an autosomal dominant disorder with complete penetrance and variable expressivity. Described by a French neurosurgeon in 1912, it is a rare genetic disorder characterized by premature closure of cranial sutures, midfacial hypoplasia, and orbi...

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Autores principales: Mohan, Raviprakash Sasankoti, Vemanna, Naveen Shanker, Verma, Sankalp, Agarwal, Neha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3551519/
https://www.ncbi.nlm.nih.gov/pubmed/23393627
http://dx.doi.org/10.4103/2156-7514.104303
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author Mohan, Raviprakash Sasankoti
Vemanna, Naveen Shanker
Verma, Sankalp
Agarwal, Neha
author_facet Mohan, Raviprakash Sasankoti
Vemanna, Naveen Shanker
Verma, Sankalp
Agarwal, Neha
author_sort Mohan, Raviprakash Sasankoti
collection PubMed
description Crouzon syndrome, also called craniofacial dysostosis, is an autosomal dominant disorder with complete penetrance and variable expressivity. Described by a French neurosurgeon in 1912, it is a rare genetic disorder characterized by premature closure of cranial sutures, midfacial hypoplasia, and orbital defects. Here, we report a case of this rare entity. The patient presented with brachycephaly, maxillary hypoplasia, exophthalmos, mandibular prognathism, along with dental and orbital abnormalities.
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spelling pubmed-35515192013-02-07 Crouzon Syndrome: Clinico-Radiological Illustration of a Case Mohan, Raviprakash Sasankoti Vemanna, Naveen Shanker Verma, Sankalp Agarwal, Neha J Clin Imaging Sci Case Report Crouzon syndrome, also called craniofacial dysostosis, is an autosomal dominant disorder with complete penetrance and variable expressivity. Described by a French neurosurgeon in 1912, it is a rare genetic disorder characterized by premature closure of cranial sutures, midfacial hypoplasia, and orbital defects. Here, we report a case of this rare entity. The patient presented with brachycephaly, maxillary hypoplasia, exophthalmos, mandibular prognathism, along with dental and orbital abnormalities. Medknow Publications & Media Pvt Ltd 2012-11-30 /pmc/articles/PMC3551519/ /pubmed/23393627 http://dx.doi.org/10.4103/2156-7514.104303 Text en Copyright: © 2012 Mohan http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Case Report
Mohan, Raviprakash Sasankoti
Vemanna, Naveen Shanker
Verma, Sankalp
Agarwal, Neha
Crouzon Syndrome: Clinico-Radiological Illustration of a Case
title Crouzon Syndrome: Clinico-Radiological Illustration of a Case
title_full Crouzon Syndrome: Clinico-Radiological Illustration of a Case
title_fullStr Crouzon Syndrome: Clinico-Radiological Illustration of a Case
title_full_unstemmed Crouzon Syndrome: Clinico-Radiological Illustration of a Case
title_short Crouzon Syndrome: Clinico-Radiological Illustration of a Case
title_sort crouzon syndrome: clinico-radiological illustration of a case
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3551519/
https://www.ncbi.nlm.nih.gov/pubmed/23393627
http://dx.doi.org/10.4103/2156-7514.104303
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