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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,...

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Autores principales: Gupta, Sangeeta, Prasad, Arun, Sinha, Upasna, Singh, Ramji, Gupta, Gaurav
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2020
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.
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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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