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 cause death in childhood. We aimed to present the anesthesia management in congenital cataract surgery in a patient with COFS in the present study.
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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Lowry RBR, McLean R, McLean DM, et al. Cataracts, microcephaly, kyphosis and limited joint movement in two siblings: a new syndrome. J Pediatr. 1971;79:282-4. https://doi.org/10.1016/S0022-3476(71)80114-2
Pena SDJ, Shokeir MHK. Autosomal recessive cerebrooculo-facio-skeletal (COFS) syndrome. Clin Genet. 1974;5:285-93. https://doi.org/10.1111/j.1399-0004.1974.tb01695.x
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
Butler MG, Hayes BG, Hathaway MM, et al. Specific genetic diseases at risk for sedation/anesthesia complications. Anesth Analg. 2000;91:837-55. https://doi.org/10.1097/00000539-200010000-00014
Cladis FP. Index of syndromes and their pediatric anesthetic implications In: Peter J. Davis FPC, editor. Smith’s Anesthesia for Infants and Children. 9th ed. Elsevier; 2017. e23-e50 p.