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HEARING IN KNIEST SYNDROME

Yıl 2003, Cilt: 16 Sayı: 3, 225 - 227, 03.12.2016

Öz

Kniest syndrome is a type of dwarfism that is characterized by unusually short arms and legs,a round face with hollow or depressed areas, swelling and stiffness of the joints and a stiff drawing up (contractures) of the fingers. Cleft palate, abnormal curvature of spine (scoliosis), and vision and/or hearing problems may also occur. Intellect is usually normal in people with this syndrome.
In this case report we present the audiologic findings of an eight-year-old boy with Kniest syndrome.
Key Words: Kniest syndrome, Hearing loss, Audiological evaluation

Kaynakça

  • Qorlin RJ, Cohen MM, Levin JRLS. Syndromes of the Head and Heck. 3rd ed. Oxford: Oxford University Press Inc., 1990:206-208.
  • Qorlin FU, Toriello HV, Cohen MM. Hereditary Hearing Loss and Its Syndromes. Oxford: Oxford University Press Inc., 1995:163.
  • McKusick, V.A http://www.ncbi.nlm.nih. gov/entrez/dispomim. cgi?id= 156550
  • Barona R, Armengot M, Oarin L, Montait J, Basterra J. tiniest syndrome. An audiological study. Ann Otorrinolaryngol Ibero Am 993;20:133-141.
  • Lomboni L, Baccichetti Y, Mokdad R, et al. Kniest s disease. Rev Stomatol Chir Maxillofac 1984;85:501-504.
  • Maumenee IH, Traboulsi El.The ocular findings in Kniest dysplasia. Am J Ophthalmol 1985:100:155-160.
  • Delgado A, Egues J, LozanoJ, Bernaola E.Kniest's disease. Metatropic. dwarfism.An Esp Pediatr 1976;9:199-204.
  • Siggers DC, Rirnoin DL, Dorst JP, et al. The Kniest syndrome. Birth Defects Orig Art Ser 1974;10:193-208.
  • MacDermot KD, Roth SC, Hall C, Winter RM.Epiphyseal dysplasia of the femoral head,mild vertebral abnormality, myopia, and sensorineural deafness: report of a pedigree with autosomal dominant inheritance.J Med Genet 1987;24:602-608.
  • Beighton P, Goldberg L, Hof JO.Dominant inheritance of multiple epiphyseal dysplasia, myopia and deafness.Clin Genet 1978,14:173-177.
  • Tscherninkov S, Alexandrov A.Kniest s dysplasia.Radiol Diagn(Berl) 1990;31:267- 267.
Yıl 2003, Cilt: 16 Sayı: 3, 225 - 227, 03.12.2016

Öz

Kaynakça

  • Qorlin RJ, Cohen MM, Levin JRLS. Syndromes of the Head and Heck. 3rd ed. Oxford: Oxford University Press Inc., 1990:206-208.
  • Qorlin FU, Toriello HV, Cohen MM. Hereditary Hearing Loss and Its Syndromes. Oxford: Oxford University Press Inc., 1995:163.
  • McKusick, V.A http://www.ncbi.nlm.nih. gov/entrez/dispomim. cgi?id= 156550
  • Barona R, Armengot M, Oarin L, Montait J, Basterra J. tiniest syndrome. An audiological study. Ann Otorrinolaryngol Ibero Am 993;20:133-141.
  • Lomboni L, Baccichetti Y, Mokdad R, et al. Kniest s disease. Rev Stomatol Chir Maxillofac 1984;85:501-504.
  • Maumenee IH, Traboulsi El.The ocular findings in Kniest dysplasia. Am J Ophthalmol 1985:100:155-160.
  • Delgado A, Egues J, LozanoJ, Bernaola E.Kniest's disease. Metatropic. dwarfism.An Esp Pediatr 1976;9:199-204.
  • Siggers DC, Rirnoin DL, Dorst JP, et al. The Kniest syndrome. Birth Defects Orig Art Ser 1974;10:193-208.
  • MacDermot KD, Roth SC, Hall C, Winter RM.Epiphyseal dysplasia of the femoral head,mild vertebral abnormality, myopia, and sensorineural deafness: report of a pedigree with autosomal dominant inheritance.J Med Genet 1987;24:602-608.
  • Beighton P, Goldberg L, Hof JO.Dominant inheritance of multiple epiphyseal dysplasia, myopia and deafness.Clin Genet 1978,14:173-177.
  • Tscherninkov S, Alexandrov A.Kniest s dysplasia.Radiol Diagn(Berl) 1990;31:267- 267.
Toplam 11 adet kaynakça vardır.

Ayrıntılar

Bölüm Case Reports
Yazarlar

Sezer Külekçi Bu kişi benim

Şengül Terlemez Bu kişi benim

Ayça Çiprut Bu kişi benim

Ferda Akdaş Bu kişi benim

Yayımlanma Tarihi 3 Aralık 2016
Yayımlandığı Sayı Yıl 2003 Cilt: 16 Sayı: 3

Kaynak Göster

APA Külekçi, S., Terlemez, Ş., Çiprut, A., Akdaş, F. (2016). HEARING IN KNIEST SYNDROME. Marmara Medical Journal, 16(3), 225-227.
AMA Külekçi S, Terlemez Ş, Çiprut A, Akdaş F. HEARING IN KNIEST SYNDROME. Marmara Med J. Mart 2016;16(3):225-227.
Chicago Külekçi, Sezer, Şengül Terlemez, Ayça Çiprut, ve Ferda Akdaş. “HEARING IN KNIEST SYNDROME”. Marmara Medical Journal 16, sy. 3 (Mart 2016): 225-27.
EndNote Külekçi S, Terlemez Ş, Çiprut A, Akdaş F (01 Mart 2016) HEARING IN KNIEST SYNDROME. Marmara Medical Journal 16 3 225–227.
IEEE S. Külekçi, Ş. Terlemez, A. Çiprut, ve F. Akdaş, “HEARING IN KNIEST SYNDROME”, Marmara Med J, c. 16, sy. 3, ss. 225–227, 2016.
ISNAD Külekçi, Sezer vd. “HEARING IN KNIEST SYNDROME”. Marmara Medical Journal 16/3 (Mart 2016), 225-227.
JAMA Külekçi S, Terlemez Ş, Çiprut A, Akdaş F. HEARING IN KNIEST SYNDROME. Marmara Med J. 2016;16:225–227.
MLA Külekçi, Sezer vd. “HEARING IN KNIEST SYNDROME”. Marmara Medical Journal, c. 16, sy. 3, 2016, ss. 225-7.
Vancouver Külekçi S, Terlemez Ş, Çiprut A, Akdaş F. HEARING IN KNIEST SYNDROME. Marmara Med J. 2016;16(3):225-7.