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International Journal of Practical Nursing

Volume  8, Issue 1, January – April 2020, Pages 33-39

 

Case Report

Rare Genetic Dissorder: Crouzon Syndrome
Gyanderi Tomar1, Vasantha Kalyani2
1Nursing Tutor, 2Associate Professor, College of Nursing, All India Institute of Medical Science, Rishikesh, Uttarakhand 249203, India.
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http://dx.doi.org/10.21088/ijpn.2347.7083.8120.6

Abstract

 

Crouzon syndrome is a rare-case found in children resulted from genetic disorder. It is characterized by premature closure of cranial sutures, most commonly coronal and sagittal, that is the most common
cause of skull abnormality. Common characteristics are vision problem resulted from exophthalmos, beaked nose and underdeveloped upper jaw. In worldwide it occurs in approximately 1 in 25000 births.1
It is the most common syndrome of craniosynostosis group. Crouzon syndrome is caused bymutationin the extracellular immunoglobulin III domain of the Fibroblast Growth Receptors 2 (FGFR2) gene.
In this type of syndrome there is no hand and/or foot abnormality that makes it different from other craniosyntosis syndrome. 2 The only effective treatment is multiple staged surgeries. Here presented a case
study on a 2 year old boy with Crouzon syndrome.
Keyword: Suture; Craniosynostosis; Brachicephaly; Crouzon syndrome; Mutation.


Corresponding Author : Vasantha Kalyani