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  • Title: Optic Nerve Hypoplasia and Crouzon Syndrome.
    Author: Eves D, O'Connor SJ, Boyle MA.
    Journal: J Pediatr Ophthalmol Strabismus; 2018 Dec 19; 55():e45-e48. PubMed ID: 30571838.
    Abstract:
    Crouzon syndrome is the most common cause of syndromic craniosynostosis. The authors present a previously unreported association between Crouzon syndrome and optic nerve hypoplasia. A male infant was transferred to the center for treatment of respiratory distress. He was diagnosed as having dysmorphic features, a membranous choanal stenossi bilaterally, and bilateral optic nerve hypoplasia. Genetic testing confirmed a molecular diagnosis of Crouzon syndrome. He had a complicated course in relation to choanal stenosis management, and was discharged home at 10 weeks of age. Although uncommon in Crouzon syndrome, the association with optic nerve hypoplasia changes the initial work-up and the management of parental expectations. [J Pediatr Ophthalmol Strabismus. 2018;55:e45-e48.].
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