Case Report
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General anesthesia application with the patient who has kabuki make-up syndrome

Year 2022, Volume: 39 Issue: 2, 560 - 562, 18.03.2022

Ferhunde Dilek Subaşı Sami Yarkın Sözüer Hilal Akça Osman Ekinci

Abstract

Kabuki Syndrome is disease derived from a rare genetic mutation that is particularly characterized by distinctive facial features, musculosketal malformations, mental retardation and cardiopulmonary anomalies and several pathologies. From anesthetic aspect, this syndrome may cause both cardiovascular and inspiratory problems, defects in palate and collum and also a number of difficulties in selecting medications and invasive procedures. Difficult intubation, prolonged neuromuscular blockage and malignant hyperthermia are frequently encountered problems in the patients with Kabuki Syndrome. An attentive examination of the patient in preoperative stage and appropriate medication preference is essential in order to prevent complications.

Keywords

KABUKI MAKE-UP CONGENITAL ANOMALY MALIGNANT HYPERTHERMIA DIFFICULT INTUBATION

References

  • 1. Cheon C-K, Ko JM. Kabukisyndrome: Clinical and molecular characteristics. Korean J Pediatr. 2015;58:317–24.
  • 2. Matsumoto N, NiikawaN.Kabukimake-upsyndrome: a review. Am J MedGenet C Semin MedGenet. 2003 Feb 15; 117C(1):57-65.
  • 3. Niikawa N, Matsuura N, Fukushima Y, Ohsawa T, Kajii T. Kabukimake-upsyndrome: a syndrome of mentalretardation, unusualfacies, largeandprotrudingears, andpostnatalgrowthdeficiency.J Pediatr. 1981 Oct; 99(4):565-9.
  • 4. Niikawa N, Kuroki Y, Kajii T, Matsuura N, Ishikiriyama S, TonokiH,et al. Kabukimake-up (Niikawa-Kuroki) syndrome: A study of 62 patients. Am J MedGenet. 1988;31:565–89.
  • 5. White SM, Thompson EM, Kidd A, Savarirayan R, Turner A, Amor D et al. Growth, behavior, andclinicalfindings in 27 patientswithKabuki (Niikawa-Kuroki) syndrome. Am J MedGenet A. 2004;127A:118–27.
  • 6. Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, et al. Exomesequencingidentifies MLL2 mutations as a cause of Kabukisyndrome.NatGenet. 2010 Sep; 42(9):790-3.
  • 7. Adam MP, Hudgins L. Kabukisyndrome: a review. ClinGenet. 2005 Mar; 67(3):209-19
  • 8. KabukiSyndromeGuideline Development Group. Management of KabukiSyndrome – A ClinicalGuideline (pdf). Availableonline. 2010. Erişim 10.09.2018
  • 9. Johnson G, Mayhew JF. Anesthesiafor a childwithKabukiSyndrome. PaediatrAnaesth. 2007 Sep;17(9):900-1.
  • 10. Atalay YO, Kaya C, Ustun YB, Sahinoglu AH. Anesthesia management in a patient with kabuki syndrome. MedArch. 2014 Oct;68(5):359-60.

Year 2022, Volume: 39 Issue: 2, 560 - 562, 18.03.2022

Ferhunde Dilek Subaşı Sami Yarkın Sözüer Hilal Akça Osman Ekinci

Abstract

References

  • 1. Cheon C-K, Ko JM. Kabukisyndrome: Clinical and molecular characteristics. Korean J Pediatr. 2015;58:317–24.
  • 2. Matsumoto N, NiikawaN.Kabukimake-upsyndrome: a review. Am J MedGenet C Semin MedGenet. 2003 Feb 15; 117C(1):57-65.
  • 3. Niikawa N, Matsuura N, Fukushima Y, Ohsawa T, Kajii T. Kabukimake-upsyndrome: a syndrome of mentalretardation, unusualfacies, largeandprotrudingears, andpostnatalgrowthdeficiency.J Pediatr. 1981 Oct; 99(4):565-9.
  • 4. Niikawa N, Kuroki Y, Kajii T, Matsuura N, Ishikiriyama S, TonokiH,et al. Kabukimake-up (Niikawa-Kuroki) syndrome: A study of 62 patients. Am J MedGenet. 1988;31:565–89.
  • 5. White SM, Thompson EM, Kidd A, Savarirayan R, Turner A, Amor D et al. Growth, behavior, andclinicalfindings in 27 patientswithKabuki (Niikawa-Kuroki) syndrome. Am J MedGenet A. 2004;127A:118–27.
  • 6. Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, et al. Exomesequencingidentifies MLL2 mutations as a cause of Kabukisyndrome.NatGenet. 2010 Sep; 42(9):790-3.
  • 7. Adam MP, Hudgins L. Kabukisyndrome: a review. ClinGenet. 2005 Mar; 67(3):209-19
  • 8. KabukiSyndromeGuideline Development Group. Management of KabukiSyndrome – A ClinicalGuideline (pdf). Availableonline. 2010. Erişim 10.09.2018
  • 9. Johnson G, Mayhew JF. Anesthesiafor a childwithKabukiSyndrome. PaediatrAnaesth. 2007 Sep;17(9):900-1.
  • 10. Atalay YO, Kaya C, Ustun YB, Sahinoglu AH. Anesthesia management in a patient with kabuki syndrome. MedArch. 2014 Oct;68(5):359-60.
There are 10 citations in total.

Details

Primary Language English
Subjects Health Care Administration
Journal Section Case Report
Authors

Ferhunde Dilek Subaşı This is me 0000-0003-3269-9138

Sami Yarkın Sözüer This is me 0000-0002-5251-7664

Hilal Akça 0000-0003-4875-9166

Osman Ekinci 0000-0002-7891-1774

Early Pub Date March 18, 2022
Publication Date March 18, 2022
Submission Date September 4, 2021
Acceptance Date February 17, 2022
Published in Issue Year 2022 Volume: 39 Issue: 2

Cite

APA Subaşı, F. D., Sözüer, S. Y., Akça, H., Ekinci, O. (2022). General anesthesia application with the patient who has kabuki make-up syndrome. Journal of Experimental and Clinical Medicine, 39(2), 560-562.
AMA Subaşı FD, Sözüer SY, Akça H, Ekinci O. General anesthesia application with the patient who has kabuki make-up syndrome. J. Exp. Clin. Med. March 2022;39(2):560-562.
Chicago Subaşı, Ferhunde Dilek, Sami Yarkın Sözüer, Hilal Akça, and Osman Ekinci. “General Anesthesia Application With the Patient Who Has Kabuki Make-up Syndrome”. Journal of Experimental and Clinical Medicine 39, no. 2 (March 2022): 560-62.
EndNote Subaşı FD, Sözüer SY, Akça H, Ekinci O (March 1, 2022) General anesthesia application with the patient who has kabuki make-up syndrome. Journal of Experimental and Clinical Medicine 39 2 560–562.
IEEE F. D. Subaşı, S. Y. Sözüer, H. Akça, and O. Ekinci, “General anesthesia application with the patient who has kabuki make-up syndrome”, J. Exp. Clin. Med., vol. 39, no. 2, pp. 560–562, 2022.
ISNAD Subaşı, Ferhunde Dilek et al. “General Anesthesia Application With the Patient Who Has Kabuki Make-up Syndrome”. Journal of Experimental and Clinical Medicine 39/2 (March 2022), 560-562.
JAMA Subaşı FD, Sözüer SY, Akça H, Ekinci O. General anesthesia application with the patient who has kabuki make-up syndrome. J. Exp. Clin. Med. 2022;39:560–562.
MLA Subaşı, Ferhunde Dilek et al. “General Anesthesia Application With the Patient Who Has Kabuki Make-up Syndrome”. Journal of Experimental and Clinical Medicine, vol. 39, no. 2, 2022, pp. 560-2.
Vancouver Subaşı FD, Sözüer SY, Akça H, Ekinci O. General anesthesia application with the patient who has kabuki make-up syndrome. J. Exp. Clin. Med. 2022;39(2):560-2.
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