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The anesthetic management in the patient with Kabuki makeup syndrome

Year 2013, , 116 - 118, 01.03.2013
https://doi.org/10.5799/ahinjs.01.2013.01.0247

Abstract

Kabuki makeup syndrome is characterized by mental retardation, characteristic facial appearance (ektropion), skeletal abnormalities, joint laxity, short stature. The syn­drome is thought to be a consequence of otosomal domi­nant mutation. Important factors in anesthetical manage­ment of these patients include; difficult airway, cardiologic problems, obstructive sleeps apne, hypotoni and maligns hyperthermia risks. In this case report we aimed to dis­cuss anesthesic management of a patient with Kabuki syndrome -a rare clinical entity in our country- . J Clin Exp Invest 2013; 4 (1): 116-118

References

  • Niikawa N, Matsuura N, Fukushima Y. Kabuki makeup syndrome: a syndrome of mental retardation,unusual facies, large and protruding ears and postnatal growth deficiency, J Pediatr 1981;99:565-569.
  • Matsumoto N, Niikawa N. Kabuki makeup syndrome: A review. Am J Med 2003;117:57-65.
  • Erginel A, Tüysüz B, Kartal A, ve ark. Bir Türk çocu- ğunda Kabuki makeup (Niikawa-Kuroki) sendromu. Ist Çocuk Klin Der 1994;29:66-70.
  • Sanlaville D, Genevieve D, Bernardin C, et al. Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome. Eur J Hum Genet 2005;13:690-693.
  • Tsukahara M, Kuroki Y, Imaizumi K, et al. Dominant inheritance of Kabuki makeup syndrome. Am J Med Genet 1997;73:19-23.
  • Van Lierde K, Van Borsel J, Van Cauvenberge P. Speech patterns in Kabuki makeup syndrome, J Comm Disord 2000;33:447-462.
  • Adam MP, Hudgins L. Kabuki syndrome: a review. Clin Genet 2004;67:209–216.
  • Sıvaci R, Kahveci OK, Celik M, et al. Anesthesia man- agement in Kabuki makeup syndrome. Saudi Med J 2005;26:1980-1982.
  • Casado AI, Ruiz J, Oro J, et al. Anaesthetic manage- ment in a case of Kabuki syndrome. Eur J Anesthesiol 2004;21:162–163.

Kabuki makeup sendromlu hastada genel anestezi uygulaması

Year 2013, , 116 - 118, 01.03.2013
https://doi.org/10.5799/ahinjs.01.2013.01.0247

Abstract

Kabuki makeup sendromu karakteristik yüz görünümü (ektropion, kulak kepçelerinin geniş ve düşük olması, ba­sık burun kökü), parmak anomalileri, iskelet anomalileri, mental retardasyon, boy kısalığı görülebilen, otozomal dominant bir mutasyonla oluştuğu düşünülen bir send­romdur. Bu hastalarda karşılaşılan zor havayolu, kardi­yak problemler, obstrüktif uyku apnesi, hipotoni ve malign hipertermi riskinden dolayı anestezistler açısından önem taşımaktadır. Biz de ülkemizde nadir rastlanan Kabuki makeup sendromlu bir hastada uyguladığımız anestezik yaklaşımı sunmayı amaçladık.

References

  • Niikawa N, Matsuura N, Fukushima Y. Kabuki makeup syndrome: a syndrome of mental retardation,unusual facies, large and protruding ears and postnatal growth deficiency, J Pediatr 1981;99:565-569.
  • Matsumoto N, Niikawa N. Kabuki makeup syndrome: A review. Am J Med 2003;117:57-65.
  • Erginel A, Tüysüz B, Kartal A, ve ark. Bir Türk çocu- ğunda Kabuki makeup (Niikawa-Kuroki) sendromu. Ist Çocuk Klin Der 1994;29:66-70.
  • Sanlaville D, Genevieve D, Bernardin C, et al. Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome. Eur J Hum Genet 2005;13:690-693.
  • Tsukahara M, Kuroki Y, Imaizumi K, et al. Dominant inheritance of Kabuki makeup syndrome. Am J Med Genet 1997;73:19-23.
  • Van Lierde K, Van Borsel J, Van Cauvenberge P. Speech patterns in Kabuki makeup syndrome, J Comm Disord 2000;33:447-462.
  • Adam MP, Hudgins L. Kabuki syndrome: a review. Clin Genet 2004;67:209–216.
  • Sıvaci R, Kahveci OK, Celik M, et al. Anesthesia man- agement in Kabuki makeup syndrome. Saudi Med J 2005;26:1980-1982.
  • Casado AI, Ruiz J, Oro J, et al. Anaesthetic manage- ment in a case of Kabuki syndrome. Eur J Anesthesiol 2004;21:162–163.
There are 9 citations in total.

Details

Primary Language Turkish
Journal Section Case Report
Authors

İsmail Aydın Erden This is me

Ayhan Köseoğlu This is me

Bekir Suat Kürkçüoğlu This is me

Seda Banu Akıncı This is me

Ülkü Aypar This is me

Publication Date March 1, 2013
Published in Issue Year 2013

Cite

APA Erden, İ. A., Köseoğlu, A., Kürkçüoğlu, B. S., Akıncı, S. B., et al. (2013). Kabuki makeup sendromlu hastada genel anestezi uygulaması. Journal of Clinical and Experimental Investigations, 4(1), 116-118. https://doi.org/10.5799/ahinjs.01.2013.01.0247
AMA Erden İA, Köseoğlu A, Kürkçüoğlu BS, Akıncı SB, Aypar Ü. Kabuki makeup sendromlu hastada genel anestezi uygulaması. J Clin Exp Invest. March 2013;4(1):116-118. doi:10.5799/ahinjs.01.2013.01.0247
Chicago Erden, İsmail Aydın, Ayhan Köseoğlu, Bekir Suat Kürkçüoğlu, Seda Banu Akıncı, and Ülkü Aypar. “Kabuki Makeup Sendromlu Hastada Genel Anestezi Uygulaması”. Journal of Clinical and Experimental Investigations 4, no. 1 (March 2013): 116-18. https://doi.org/10.5799/ahinjs.01.2013.01.0247.
EndNote Erden İA, Köseoğlu A, Kürkçüoğlu BS, Akıncı SB, Aypar Ü (March 1, 2013) Kabuki makeup sendromlu hastada genel anestezi uygulaması. Journal of Clinical and Experimental Investigations 4 1 116–118.
IEEE İ. A. Erden, A. Köseoğlu, B. S. Kürkçüoğlu, S. B. Akıncı, and Ü. Aypar, “Kabuki makeup sendromlu hastada genel anestezi uygulaması”, J Clin Exp Invest, vol. 4, no. 1, pp. 116–118, 2013, doi: 10.5799/ahinjs.01.2013.01.0247.
ISNAD Erden, İsmail Aydın et al. “Kabuki Makeup Sendromlu Hastada Genel Anestezi Uygulaması”. Journal of Clinical and Experimental Investigations 4/1 (March 2013), 116-118. https://doi.org/10.5799/ahinjs.01.2013.01.0247.
JAMA Erden İA, Köseoğlu A, Kürkçüoğlu BS, Akıncı SB, Aypar Ü. Kabuki makeup sendromlu hastada genel anestezi uygulaması. J Clin Exp Invest. 2013;4:116–118.
MLA Erden, İsmail Aydın et al. “Kabuki Makeup Sendromlu Hastada Genel Anestezi Uygulaması”. Journal of Clinical and Experimental Investigations, vol. 4, no. 1, 2013, pp. 116-8, doi:10.5799/ahinjs.01.2013.01.0247.
Vancouver Erden İA, Köseoğlu A, Kürkçüoğlu BS, Akıncı SB, Aypar Ü. Kabuki makeup sendromlu hastada genel anestezi uygulaması. J Clin Exp Invest. 2013;4(1):116-8.