Year 2012,
Volume: 2 Issue: 2
,
16
-
18
,
13.06.2013
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.
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
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 |
|---|---|
| Authors | |
| Submission Date | July 24, 2012 |
| Publication Date | June 13, 2013 |
| IZ | https://izlik.org/JA84NW33ZH |
| Published in Issue | Year 2012 Volume: 2 Issue: 2 |
