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Klippel-Feil Sendromu ve Otolojik Bulgular

Year 2012, Volume: 2 Issue: 2, 16 - 18, 13.06.2013

Serhan Derin , Safter Ulubil Mete İşeri Abdülkadir Oran , Fatma Kuru

Abstract

Klippel-Feil sendromu ilk kez 1912 yılında birbirinden bağımsız olarak Maurice Klippel ve Andre Feil tarafından tanımlanmıştır. Kısa geniş boyun, inferior yerleşimli ense saç çizgisi, azalmış boyun hareketleri ana bulgularıdır. İnsidansı
40000-50000 doğumda 1’dir. Orta ve iç kulak anomalileri rapor edilmiştir. Buna sekonder sensörinöral, iletim tipi ve nadiren de mikst tip işitme kayıpları görülebilmektedir. Bu çalışmada Klippel-Feil sendromu tanısı koyduğumuz otolojik patolojileri saptanan iki vaka sunuldu.

Keywords

Klippel-feil sendromu; otolojik değerlendirme; ani işitme kaybı

References

  • Clarke RA, Singh S, McKenzie H, Kearsley J H, Yip M Y. Familial Klippel-Feil syndrome and paracentric inversion inv(8)(q22.2q23.3). Am J Hum Genet. 1995; 57: 1364-70.
  • Tracy MR, Dormans JP, Kusumi K. Klippel-Feil syndrome: clinical features and current understanding of etiology. Clin Orthop Relat Res. 2004; 424: 183-90.
  • Thomsen MN, Schneider U, Weber M, Johannisson R, Niethard FU. Scoliosis and congenital anomalies associated with Klippel-Feil syndrome types IIII. Spine. 1997; 22: 396- 401.
  • Thompson E, Haan E, Sheffield L. Autosomal dominant Klippel-Feil anomaly with cleft palate. Clin Dysmorphol. 1998; 7: 11-5.
  • Mahirogullari M, Ozkan H, Yıldırım N, Cilli F, Güdemez E. Klippel-Feil abnormalities: evaluation of 23 cases. Acta Orthop Traumatol Turc. 2006; 40(3): 234-9. and associated congenital
  • Mc Gaughran JM, Kuna P, Das V. Audiological abnormalities in the Klippel-Feil syndrome. Arch Dis Child. 1998; 79: 352- 5.
  • Oeken J, Konig E, Kosling S, Meister E. Middle ear abnormalities in Klippel-Feil syndrome. HNO. 1996; 44: 521- 5.
  • Miyamoto RT, Yune HY, Rosevear WH. Klippel-Feil syndrome and associated ear deformities. Am J Otol. 1983; 5: 113-9.
  • Mundnich K. The dysplasias of the middle and the inner ear in different types of malformation. Proc R Soc Med. 1974; 67: 1197-8.
  • van Rijn PM, Cremers CW. Surgery for congenital conductive deafness in Klippel-Feil syndrome. Ann Otol Rhinol Laryngol. 1988; 97: 347-52.
  • Schuknecht HF, Reisser C. The morphologic basis of perilymphatic gushers and oozers. Adv Otorhinolaryngol. 1988; 39: 1-12.
  • Milner LS, Davidge-Pitts KJ, Rosen EU, Anderson MG. Recurrent meningitis due to round-window fistula in Klippel- Feil syndrome. A case report. S Afr Med J. 1983; 64: 413-4.
  • Tachdjian MO. Congenital deformities. In: Pediatric orthopedics. 2nd ed. Philadelphia: W. B. Saunders; 1990. p. 128-35.

Year 2012, Volume: 2 Issue: 2, 16 - 18, 13.06.2013

Serhan Derin , Safter Ulubil Mete İşeri Abdülkadir Oran , Fatma Kuru

Abstract

References

  • Clarke RA, Singh S, McKenzie H, Kearsley J H, Yip M Y. Familial Klippel-Feil syndrome and paracentric inversion inv(8)(q22.2q23.3). Am J Hum Genet. 1995; 57: 1364-70.
  • Tracy MR, Dormans JP, Kusumi K. Klippel-Feil syndrome: clinical features and current understanding of etiology. Clin Orthop Relat Res. 2004; 424: 183-90.
  • Thomsen MN, Schneider U, Weber M, Johannisson R, Niethard FU. Scoliosis and congenital anomalies associated with Klippel-Feil syndrome types IIII. Spine. 1997; 22: 396- 401.
  • Thompson E, Haan E, Sheffield L. Autosomal dominant Klippel-Feil anomaly with cleft palate. Clin Dysmorphol. 1998; 7: 11-5.
  • Mahirogullari M, Ozkan H, Yıldırım N, Cilli F, Güdemez E. Klippel-Feil abnormalities: evaluation of 23 cases. Acta Orthop Traumatol Turc. 2006; 40(3): 234-9. and associated congenital
  • Mc Gaughran JM, Kuna P, Das V. Audiological abnormalities in the Klippel-Feil syndrome. Arch Dis Child. 1998; 79: 352- 5.
  • Oeken J, Konig E, Kosling S, Meister E. Middle ear abnormalities in Klippel-Feil syndrome. HNO. 1996; 44: 521- 5.
  • Miyamoto RT, Yune HY, Rosevear WH. Klippel-Feil syndrome and associated ear deformities. Am J Otol. 1983; 5: 113-9.
  • Mundnich K. The dysplasias of the middle and the inner ear in different types of malformation. Proc R Soc Med. 1974; 67: 1197-8.
  • van Rijn PM, Cremers CW. Surgery for congenital conductive deafness in Klippel-Feil syndrome. Ann Otol Rhinol Laryngol. 1988; 97: 347-52.
  • Schuknecht HF, Reisser C. The morphologic basis of perilymphatic gushers and oozers. Adv Otorhinolaryngol. 1988; 39: 1-12.
  • Milner LS, Davidge-Pitts KJ, Rosen EU, Anderson MG. Recurrent meningitis due to round-window fistula in Klippel- Feil syndrome. A case report. S Afr Med J. 1983; 64: 413-4.
  • Tachdjian MO. Congenital deformities. In: Pediatric orthopedics. 2nd ed. Philadelphia: W. B. Saunders; 1990. p. 128-35.
There are 13 citations in total.

Details

Primary Language Turkish
Journal Section Case Reports
Authors

Serhan Derin

Safter Ulubil This is me

Mete İşeri This is me

Abdülkadir Oran

Fatma Kuru This is me

Publication Date June 13, 2013
Submission Date July 24, 2012
Published in Issue Year 2012 Volume: 2 Issue: 2

Cite

APA Derin, S., Ulubil, S., İşeri, M., Oran, A., et al. (2013). Klippel-Feil Sendromu ve Otolojik Bulgular. Düzce Üniversitesi Sağlık Bilimleri Enstitüsü Dergisi, 2(2), 16-18.
AMA Derin S, Ulubil S, İşeri M, Oran A, Kuru F. Klippel-Feil Sendromu ve Otolojik Bulgular. J DU Health Sci Inst. June 2013;2(2):16-18.
Chicago Derin, Serhan, Safter Ulubil, Mete İşeri, Abdülkadir Oran, and Fatma Kuru. “Klippel-Feil Sendromu Ve Otolojik Bulgular”. Düzce Üniversitesi Sağlık Bilimleri Enstitüsü Dergisi 2, no. 2 (June 2013): 16-18.
EndNote Derin S, Ulubil S, İşeri M, Oran A, Kuru F (June 1, 2013) Klippel-Feil Sendromu ve Otolojik Bulgular. Düzce Üniversitesi Sağlık Bilimleri Enstitüsü Dergisi 2 2 16–18.
IEEE S. Derin, S. Ulubil, M. İşeri, A. Oran, and F. Kuru, “Klippel-Feil Sendromu ve Otolojik Bulgular”, J DU Health Sci Inst, vol. 2, no. 2, pp. 16–18, 2013.
ISNAD Derin, Serhan et al. “Klippel-Feil Sendromu Ve Otolojik Bulgular”. Düzce Üniversitesi Sağlık Bilimleri Enstitüsü Dergisi 2/2 (June 2013), 16-18.
JAMA Derin S, Ulubil S, İşeri M, Oran A, Kuru F. Klippel-Feil Sendromu ve Otolojik Bulgular. J DU Health Sci Inst. 2013;2:16–18.
MLA Derin, Serhan et al. “Klippel-Feil Sendromu Ve Otolojik Bulgular”. Düzce Üniversitesi Sağlık Bilimleri Enstitüsü Dergisi, vol. 2, no. 2, 2013, pp. 16-18.
Vancouver Derin S, Ulubil S, İşeri M, Oran A, Kuru F. Klippel-Feil Sendromu ve Otolojik Bulgular. J DU Health Sci Inst. 2013;2(2):16-8.
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