A Rare Case of Crouzen Syndrome-Diagnosis and Detailed Evaluation
Abstract: Crouzon syndrome (Craniofacial dysostosis) is rare genetic disorder of autosomal dominance, caused due to mutation in fibroblast growth factor receptor-2 gene. It characterized with premature closure of cranial sutures-craniosynostosis, mid facial hypoplasia and orbital features-Hypertelorism, Strabismus, Exophthalmos, optic Atrophy. A 56 yr/M present with diminution of vision Bulging of eyes and deviation of eyeball and facial deformity. Examination of eyes revealed RE exotropia on hirschberg test, exophthalmos after exophthalmometer finding. Fundus evaluation with indirect ophthalmoscope B/L optic atrophy revealed. Therefore it becomes important to evaluate such patients thoroughly. MRI findings of craniosynostosis and B/L optic atrophy confirms diagnosis. It is also helpful to diagnose such cases earlier to avoid severe visual impairment and refer them to concerned specialist for further evaluation and timely intervention and psychosocial support to entire family is important.
Keywords: Crouzon syndrome, Autosomal dominance, craniosynostosis, Exophthalmos, Optic atrophy, mid facial hypoplasia
How to Cite?: Dr. Chandarani Dattatrya Wagre, Dr. Satish S Desai, Dr. Richa Verma, "A Rare Case of Crouzen Syndrome-Diagnosis and Detailed Evaluation", Volume 12 Issue 5, May 2023, International Journal of Science and Research (IJSR), Pages: 219-221, https://www.ijsr.net/getabstract.php?paperid=MR23428225610, DOI: https://dx.doi.org/10.21275/MR23428225610