Cerebro-oculo-facio-skeletal syndrome (COFS, Pena-Shokeir syndrome Type II, Cockayne syndrome Type II) is a rare progressive syndrome with autosomal recessive transition that may causedeath in childhood.We aimed to present the anesthesia management in congenital cataract surgery in a patient withCOFS in the present study.
📌 3 Key Takeaways
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Objective & Hypothesis:Cerebro-oculo-facio-skeletal syndrome (COFS, Pena-Shokeir syndrome Type II, Cockayne syndrome Type II) is a rare progressive syndrome with autosomal recessive transition that may causedeath in childhood.We aimed to present the anesthesia management in congenital cataract surgery in a patient withCOFS in the present study.
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Key Findings & Data:Cerebro-oculo-facio-skeletal syndrome (COFS, Pena-Shokeir syndrome Type II, Cockayne syndrome Type II) is a rare progressive syndrome with autosomal recessive transition that may causedeath in childhood.We aimed to present the anesthesia management in congenital cataract surgery in a patient withCOFS in the present study.
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Conclusion & Impact:Cerebro-oculo-facio-skeletal syndrome (COFS, Pena-Shokeir syndrome Type II, Cockayne syndrome Type II) is a rare progressive syndrome with autosomal recessive transition that may causedeath in childhood.We aimed to present the anesthesia management in congenital cataract surgery in a patient withCOFS in the present study.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters
Abstract
Cerebro-oculo-facio-skeletal syndrome (COFS, Pena-Shokeir syndrome Type II, Cockayne syndrome Type II) is a rare progressive syndrome with autosomal recessive transition that may causedeath in childhood.We aimed to present the anesthesia management in congenital cataract surgery in a patient withCOFS in the present study.
Özet
Serebro-okülo-fasiyo-skeletal sendrom (COFS, Pena-Shokeir Syndrome Type II, Cockayne Syndrome Type II); çocukluk çağında ölümlere neden olabilen otozomal resesif geçişli, nadir görülen progresif bir sendromdur. Bu olgu sunumu ile COFS tanılı hastamızda konjenital katarakt cerrahisi için anestezi yönetiminin sunulması amaçlanmıştır.
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Cite This Article
ÇELEBi, N., ŞAYLAN, A., CANBAY, Ö. (2022). Anesthetic Management of a Child with Cerebro-Oculo-Facio-Skeletal Syndrome. Anestezi Dergisi, Cilt: 27 - Sayı: 1, 63–65. https://ajindex.com/articles/440492
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Laugel V, Dalloz C, Tobias ES, et al. Cerebro-oculo-facioskeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation. J Med Genet. 2008;45:564-71. https://doi.org/10.1136/jmg.2007.057141.Epub 2008 Jul 15. Prevalence and incidence of rare diseases: Bibliographic data. Available from: http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_ by_alphabetical_list.pdf Graham JM, Jr., Anyane-Yeboa K, Raams A, et al. Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy. Am J Hum Genet. 2001;69:291-300. https://doi.org/10.1086/321295
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