BARDET-BIEDL SYNDROME

Volume: 13 Number: 3 December 3, 2016
  • Nurdan Erol
  • Aysu Türkmen
  • Ahmet Özgüner
  • Serpil Yavrucu
  • Can Erzik
  • Kürşat Özer
EN

BARDET-BIEDL SYNDROME

Abstract

A 3,5-year-old boy was admitted with febrile convulsion and bronchitis. He had polydactyly, obesity, and micropenis on his physical examination which indicated the Bardet Biedl syndrome. Then further investigations were made to make the definitive diagnosis, in the light of literature. We would like to present this case report.
Key Words: Bardet Biedl syndrome, Obesity, Retinitis pigmentosa, Hypogonadism, Mental retardation, Polydactyly.

References

  1. Warkany, J, Congenital Malformations, Laurence Moon Biedl syndrome. Chicago: Year Book Med Publisher Inc. 1971;1 76-180.
  2. Bauman ML, liogan QH. Laurence-Moon-Biedl syndrome. Am J dis Child 1973; 126:119.
  3. Beales PL, Elfioglu M, Woolfs AS, Parker D, Flinter FA, Mew criteria for improved diagnosis of Bardet-Biedi syndrome, results of a population survey. J Med Qenet 1999:36:437- 446.
  4. Bardet Biedl syndrome
  5. Hrynchak Pli. Bardet-Biedl syndrome. Optom Vis Sci 2000; 77:236-243.
  6. Beales PL, Warner AM, Hitman GA, Thajjer R,
  7. Flinter FA, Bardet Biedl syndrome: A
  8. molecular and phenotypic study of 18 families. J Med Genet 1997;34:92-98.

Details

Primary Language

English

Subjects

-

Journal Section

-

Authors

Nurdan Erol This is me

Aysu Türkmen This is me

Ahmet Özgüner This is me

Serpil Yavrucu This is me

Can Erzik This is me

Kürşat Özer This is me

Publication Date

December 3, 2016

Submission Date

May 2, 2016

Acceptance Date

-

Published in Issue

Year 2000 Volume: 13 Number: 3

APA
Erol, N., Türkmen, A., Özgüner, A., Yavrucu, S., Erzik, C., & Özer, K. (2016). BARDET-BIEDL SYNDROME. Marmara Medical Journal, 13(3), 156-161. https://izlik.org/JA65CZ99DY
AMA
1.Erol N, Türkmen A, Özgüner A, Yavrucu S, Erzik C, Özer K. BARDET-BIEDL SYNDROME. Marmara Med J. 2016;13(3):156-161. https://izlik.org/JA65CZ99DY
Chicago
Erol, Nurdan, Aysu Türkmen, Ahmet Özgüner, Serpil Yavrucu, Can Erzik, and Kürşat Özer. 2016. “BARDET-BIEDL SYNDROME”. Marmara Medical Journal 13 (3): 156-61. https://izlik.org/JA65CZ99DY.
EndNote
Erol N, Türkmen A, Özgüner A, Yavrucu S, Erzik C, Özer K (June 1, 2016) BARDET-BIEDL SYNDROME. Marmara Medical Journal 13 3 156–161.
IEEE
[1]N. Erol, A. Türkmen, A. Özgüner, S. Yavrucu, C. Erzik, and K. Özer, “BARDET-BIEDL SYNDROME”, Marmara Med J, vol. 13, no. 3, pp. 156–161, June 2016, [Online]. Available: https://izlik.org/JA65CZ99DY
ISNAD
Erol, Nurdan - Türkmen, Aysu - Özgüner, Ahmet - Yavrucu, Serpil - Erzik, Can - Özer, Kürşat. “BARDET-BIEDL SYNDROME”. Marmara Medical Journal 13/3 (June 1, 2016): 156-161. https://izlik.org/JA65CZ99DY.
JAMA
1.Erol N, Türkmen A, Özgüner A, Yavrucu S, Erzik C, Özer K. BARDET-BIEDL SYNDROME. Marmara Med J. 2016;13:156–161.
MLA
Erol, Nurdan, et al. “BARDET-BIEDL SYNDROME”. Marmara Medical Journal, vol. 13, no. 3, June 2016, pp. 156-61, https://izlik.org/JA65CZ99DY.
Vancouver
1.Nurdan Erol, Aysu Türkmen, Ahmet Özgüner, Serpil Yavrucu, Can Erzik, Kürşat Özer. BARDET-BIEDL SYNDROME. Marmara Med J [Internet]. 2016 Jun. 1;13(3):156-61. Available from: https://izlik.org/JA65CZ99DY