Optic Nerve Hypoplasia and Crouzon Syndrome
| العنوان: | Optic Nerve Hypoplasia and Crouzon Syndrome |
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| المؤلفون: | Michael A Boyle, Doireann Eves, Shona J O'Connor |
| المصدر: | Journal of Pediatric Ophthalmology & Strabismus. 55 |
| بيانات النشر: | SLACK, Inc., 2018. |
| سنة النشر: | 2018 |
| مصطلحات موضوعية: | Male, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Gestational Age, Syndromic craniosynostosis, 03 medical and health sciences, 0302 clinical medicine, Humans, Medicine, Eye Abnormalities, 030212 general & internal medicine, Strabismus, Bilateral Optic Nerve Hypoplasia, Optic nerve hypoplasia, Respiratory distress, business.industry, Craniofacial Dysostosis, Infant, Newborn, Crouzon syndrome, Gestational age, Optic Nerve, General Medicine, Choanal stenosis, medicine.disease, Magnetic Resonance Imaging, Ophthalmology, Pediatrics, Perinatology and Child Health, 030221 ophthalmology & optometry, sense organs, Tomography, X-Ray Computed, business |
| الوصف: | 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.] |
| تدمد: | 1938-2405 0191-3913 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3ddd80280d6ef35277f6a802e924a5c https://doi.org/10.3928/01913913-20181012-02 |
| رقم الأكسشن: | edsair.doi.dedup.....a3ddd80280d6ef35277f6a802e924a5c |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 19382405 01913913 |
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