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Crouzon Syndrome in a Ten-week-old Infant: A Case Report
Crouzon syndrome is a rare genetic disorder. We report a rare case of Crouzon syndrome in a very young infant with distinct features of craniofacial malformations. A 10-week-old male child presented with features of craniofacial dysostosis with abnormal shape of the skull, proptosis, hypertelorism,...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer - Medknow
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7305672/ https://www.ncbi.nlm.nih.gov/pubmed/32587497 http://dx.doi.org/10.4103/sjmms.sjmms_38_19 |
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author | Gupta, Sangeeta Prasad, Arun Sinha, Upasna Singh, Ramji Gupta, Gaurav |
author_facet | Gupta, Sangeeta Prasad, Arun Sinha, Upasna Singh, Ramji Gupta, Gaurav |
author_sort | Gupta, Sangeeta |
collection | PubMed |
description | Crouzon syndrome is a rare genetic disorder. We report a rare case of Crouzon syndrome in a very young infant with distinct features of craniofacial malformations. A 10-week-old male child presented with features of craniofacial dysostosis with abnormal shape of the skull, proptosis, hypertelorism, curved nose and frontal bossing. Radiological findings revealed a predominant premature fusion of sagittal sutures. The infant had airway obstruction. Features of hydrocephalus, papilledema and optic atrophy were not evident. We chose to manage the symptoms and prevent complications, and the surgery was deferred for later, depending on the degree of malformation and psychological needs. Diagnosis of this rare condition at an early stage can help in preventing the development of complications. A careful follow-up and appropriate surgical intervention can improve the prognosis of this condition, which carries the risk of respiratory complications, poor vision and, in some cases, mental retardation as the age advances. |
format | Online Article Text |
id | pubmed-7305672 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Wolters Kluwer - Medknow |
record_format | MEDLINE/PubMed |
spelling | pubmed-73056722020-06-24 Crouzon Syndrome in a Ten-week-old Infant: A Case Report Gupta, Sangeeta Prasad, Arun Sinha, Upasna Singh, Ramji Gupta, Gaurav Saudi J Med Med Sci Case Report Crouzon syndrome is a rare genetic disorder. We report a rare case of Crouzon syndrome in a very young infant with distinct features of craniofacial malformations. A 10-week-old male child presented with features of craniofacial dysostosis with abnormal shape of the skull, proptosis, hypertelorism, curved nose and frontal bossing. Radiological findings revealed a predominant premature fusion of sagittal sutures. The infant had airway obstruction. Features of hydrocephalus, papilledema and optic atrophy were not evident. We chose to manage the symptoms and prevent complications, and the surgery was deferred for later, depending on the degree of malformation and psychological needs. Diagnosis of this rare condition at an early stage can help in preventing the development of complications. A careful follow-up and appropriate surgical intervention can improve the prognosis of this condition, which carries the risk of respiratory complications, poor vision and, in some cases, mental retardation as the age advances. Wolters Kluwer - Medknow 2020 2020-04-17 /pmc/articles/PMC7305672/ /pubmed/32587497 http://dx.doi.org/10.4103/sjmms.sjmms_38_19 Text en Copyright: © 2020 Saudi Journal of Medicine & Medical Sciences http://creativecommons.org/licenses/by-nc-sa/4.0 This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms. |
spellingShingle | Case Report Gupta, Sangeeta Prasad, Arun Sinha, Upasna Singh, Ramji Gupta, Gaurav Crouzon Syndrome in a Ten-week-old Infant: A Case Report |
title | Crouzon Syndrome in a Ten-week-old Infant: A Case Report |
title_full | Crouzon Syndrome in a Ten-week-old Infant: A Case Report |
title_fullStr | Crouzon Syndrome in a Ten-week-old Infant: A Case Report |
title_full_unstemmed | Crouzon Syndrome in a Ten-week-old Infant: A Case Report |
title_short | Crouzon Syndrome in a Ten-week-old Infant: A Case Report |
title_sort | crouzon syndrome in a ten-week-old infant: a case report |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7305672/ https://www.ncbi.nlm.nih.gov/pubmed/32587497 http://dx.doi.org/10.4103/sjmms.sjmms_38_19 |
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