Property | Value |
Name | Congenital contractural arachnodactyly: Case report and literature review |
Description | Case report & Literature review:-Anesthesiology and Reanimation Tuba Berra Saritas1* , Hasan Salcan2 , Remziye Gül Sivaci2 1Necmettin Erbakan University, Meram Medical School, Anesthesiology and Reanimation Department, Konya-Turkey. 2Afyonkocatepe University, Medical School, Anesthesiology and Reanimation Department, Afyonkarahisar-Turkey.
Abstract:- Congenital contractural arachnoductyly is a very rare autosomal dominantly inherited connective tissue disorder. It is caused by a fibrillin gene (FBN2) mutation in 5q23. It affects many of the body parts. Contractures, scoliosis, pectus carinatum, camptodactyly, crumpled external ears, micrognathia, highly arched palate, pseudotrismus and cranial abnormalities found. These are high risk people for anesthesia. Detailed physical examination and preparation for anesthetic procedures required.
Key Words:-Arachnodactyly, Crumpled Ear, Anaesthesia.
References:- 1.Hecht F, Beals RK . Inability to open mouth fully: an autosomal dominant phenotype with facultative camptodactyly and short stature. Birth Defects Orig Art Ser 1969; 5: 96-98 2.Tuncbilek E, Alanay Y Congenital contractural arachnodactyly syndrome (Beals syndrome) Orphanet Journal of Rare Diseases 2006, 1;1: 20. 3.Carlos R, Contreras E, Cabrera J. Trismus –pseudocamptodactyly syndrome (Hecht-Beals’ syndrome): case report and literature review. Oral Diseases 2005;11:186-189. 4.Vaghadia H, Black Stock P. Anaesthetic implications of the trismus pseudocamptoductyly (Dutch- Kennedy or Hecht Beals Syndrome. Can J Anaesth 1988; 35:80-85. 5.Lano CF, Workhaven J. Airway management in a patient with Hecht Syndrome So Med J 1997; 90:1241-3 6.Terris DJ, Fincher EF, Hanasono MM, Fee WE Jr, Adachi K. Conservation of resources: indications for intensive care monitoring after upper airway surgery on patients with obstructive sleep apnea. Laryngoscope; 1998, 108:784-8. 7.Takaesi-Miyagi S, Sakai H, ShiromaT, et al. Ocular findings of Beals syndrome. Jpn J Ophtalmol 2004, 48: 470-74. 8.Vade A, Sukhani R, Dolenga M, Habisohn-Schuck C. Chloral hydrate sedation of children undergoing CT and MR imaging: safety judged by American Academy of Pediatrics guidelines. Am J Roentgenol 1995; 165:905-909. 9.Malviya S, Voepel – Lewis T, Eldevik OP, et al. Sedation and general anaesthesia in children undergoing MRI and CT scans with adverse events and outcomes Br J Anaesth 2000; 84: 743-8. |
Filename | Tuba Berra Saritas, Hasan Salcan & Md.Remziye Gül Sivaci(308-310).pdf |
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Created On: | 01/05/2013 00:00 |
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Last updated on | 01/07/2013 02:34 |
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