Crouzon Syndrome with Ocular Abnormalities: A Case Report
Journal Title: Indian Journal of Neonatal Medicine and Research - Year 2016, Vol 4, Issue 4
Abstract
ABSTRACT Crouzon syndrome is a rare genetic disorder characterized by premature closure of cranial sutures, exophthalmos, beak-like nose and mid facial hypoplasia. It was initially described as hereditary syndrome of craniofacial synostosis. There is premature fusion of one or more cranial sutures in craniosynostosis leading to skull deformities. Craniofacial abnormalities are usually present at birth and may progress with time. The most common presentation is brachycephaly but the timing and order of suture fusion contributes to the shape of head. The orbits are shallow resulting in ocular proptosis with or without divergent strabismus. Hypoplasia of maxilla with curved parrot like nose and orbital hypertelorism are typical facial features. The diagnosis and management of craniofacial abnormalities have always been a challenge therefore understanding of these abnormalities is necessary to monitor subsequent growth and to ensure that the patient receives the best available care. Herein, we report this rare entity of Crouzon syndrome showing characteristic features with ocular abnormalities.
Authors and Affiliations
Shakeen Singh, Anubha Bhatti, Mabel Bishnoi
Keywords
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- EP ID EP498463
- DOI 10.7860/IJNMR/2016/22133.2195
- Views 126
- Downloads 0
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