ARTROGRIPOSIS DISTAL: INFORME DE UN CASO SUGESTIVO DE SÍNDROME DE FREEMAN-SHELDON
Las artrogriposis distales son un grupo de malformaciones autosómicas dominantes que se presentan en uno de cada 3 000 nacidos vivos y se caracterizan por la presentación de contracturas musculares congénitas en una o dos más áreas del cuerpo.
Institución del autor
Universidad ICESI, CALI, Colombia
Bibliografía del caso clínico
1. Stevenson DA, Carey JC, Palumbos J, Rutherford A, Dolcourt J, Bamshad MJ. Clinical characteristics and natural history of Freeman-Sheldon syndrome. Pediatrics 117(3):754-62, 2006.
2. Ashish J, Muralidhar R, Vijayalakshmi P, Meenakshi S. Freeman-Sheldon syndrome: case report and review of the literature. Int Ophthalmol 31(5):405-7, 2011.
3. Tajsharghi H, Kimber E, Kroksmark AK, Jerre R, Tulinius M, Oldfors A. Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally. Arch Neurol 65(8):1083-90, 2008.
4. Kimber E, Tajsharghi H, Kroksmark AK, Oldfors A, Tulinius M. Distal arthrogryposis: clinical and genetic findings. Acta Paediatr 101(8):877-87, 2012.
5. Shrimpton AE, Hoo JJ. A TNNI2 mutation in a family with distal arthrogryposis type 2B. Eur J Med Genet 49(2):201-6, 2006.
6. Ferrari D, Bettuzzi C, Donzelli O. Freeman-Sheldon syndrome. A case report and review of the literature. Chir Organi Mov 92(2):127-31, 2008.
7. Li X, Jiang M, Han W, Zhao N, Liu W, Sui Y, et al. A novel TNNI2 mutation causes Freeman-Sheldon syndrome in a Chinese family with an affected adult with only facial contractures. Gene 527(2):630-5, 2013.
8. Attia A, Suleman M, Nwasser AAAA. Freeman-Sheldon syndrome with respiratory failure: A case report. Respiratory Medicine CME 1(4):274-7, 2008.
9. Sadrimanesh R, Hassani A, Vahdati SA, Chaghari H, Sadr-Eshkevari P, Rashad A. Freeman-Sheldon syndrome: combined surgical and non-surgical approach. J Craniomaxillofac Surg 41(5):397-402, 2013.
10. Madi-Jebara S, El-Hajj C, Jawish D, Ayoub E, Kharrat K, Antakly MC. Anesthetic management of a patient with Freeman-Sheldon syndrome: case report. J Clin Anesth 19(6):460-2, 2007.
11. Patel K, Gursale A, Chavan D, Sawant P. Anaesthesia challenges in Freeman-Sheldon syndrome. Indian J Anaesth 57(6):632-3, 2013.
12. Malkawi H, Tarawneh M. The whistling face syndrome, or craniocarpotarsal dysplasia. Report of two cases in a father and son and review of the literature. J Pediatr Orthop 3(3):364-9, 1983.
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