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
- Warkany, J, Congenital Malformations, Laurence Moon Biedl syndrome. Chicago: Year Book Med Publisher Inc. 1971;1 76-180.
- Bauman ML, liogan QH. Laurence-Moon-Biedl syndrome. Am J dis Child 1973; 126:119.
- 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.
- Bardet Biedl syndrome
- Hrynchak Pli. Bardet-Biedl syndrome. Optom Vis Sci 2000; 77:236-243.
- Beales PL, Warner AM, Hitman GA, Thajjer R,
- Flinter FA, Bardet Biedl syndrome: A
- 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
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Serpil Yavrucu
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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