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Dergiler / Marmara Medical Journal / 2026 / Volume: 16 Issue: 3

HEARING IN KNIEST SYNDROME

Sezer Külekçi
Şengül Terlemez
Ayça Çiprut
Ferda Akdaş
Sayfa
—
Yayın Tarihi
2016-12-03
DOI
—
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Key Words: Kniest syndrome, Hearing loss, Audiological evaluation

📌 3 Maddede Bu Makale

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Amaç & Hipotez: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.
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Temel Bulgular & Veri:Cleft palate, abnormal curvature of spine (scoliosis), and vision and/or hearing problems may also occur.
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Sonuç & Katkı:Key Words: Kniest syndrome, Hearing loss, Audiological evaluation
🔬Tür:Article
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Alan Parametreleri

Abstract

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

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Bu Makaleye Atıf Yap

Külekçi, S., Terlemez, Ş., Çiprut, A., Akdaş, F. (2016). HEARING IN KNIEST SYNDROME. Marmara Medical Journal, Volume: 16 Issue: 3. https://ajindex.com/articles/1287236

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Kaynakça (11)

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