Year 2003,
Volume: 16 Issue: 3, 225 - 227, 03.12.2016
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
References
- 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.
Year 2003,
Volume: 16 Issue: 3, 225 - 227, 03.12.2016
Abstract
References
- 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.
There are 11 citations in total.
Details
| Journal Section | Case Reports |
|---|---|
| Authors | |
| Publication Date | December 3, 2016 |
| Published in Issue | Year 2003 Volume: 16 Issue: 3 |