Buradasınız

Anasayfa » Content

Bardet biedl syndrome- A case report

Journal Name:

  • Indian Journal of Basic & Applied Medical Research

Publication Year:

  • 2014

Key Words:

Author Name
Abstract (2. Language): 
Bardet biedl syndrome (BBS) is a rare, genetic disorder with involvement of multiple systems and wide spectrum of clinical features. It is also known as Laurence-Moon syndrome (LMS). Characteristic features of this disorder are cone-rod dystrophy, postaxial polydactyly, truncal obesity, kidney abnormalities and learning difficulties. It may also be associated with diminished size and decreased function of the testes in males (hypogonadism) and complex genitourinary abnormalities in females. Bardet-Biedl syndrome is inherited mostly as an autosomal recessive trait. It affects males and females equally. This syndrome is usually diagnosed in childhood based upon thorough clinical evaluation and detection of characteristic findings (e.g., visual problems due to retinal dystrophy, obesity, polydactyly). Genetic testing may assist in diagnosing the disorder in selected cases (e.g., individuals with certain BBS1 and BBS10 gene mutations). The treatment of Bardet-Biedl syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. We present a case of 10yrs female patient with Bardet Biedl syndrome presenting in medicine department with vague abdominal pain, learning difficulties, obesity, decreased night vision and polydactyly. On investigations she had type IV Choledochal cyst & left mild hydronephrosis.
Bookmark/Search this post with
FULL TEXT (PDF): 
PDF icon arastirmax-bardet-biedl-syndrome-case-report.pdf
  • 1
425
429
  • English

REFERENCES

References: 

1. Green JS, Parfrey PS, Harnett JD, et al. The cardinal manifestations of Bardet-Biedl syndrome, a form
of Laurence-Moon-Biedl syndrome. N Engl J Med 1989;321:1002-9.
2. Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA. New criteria for improved diagnosis of
Bardet-Biedl syndrome: results of a population survey. J Med Genet 1999; 36:437-446.
3. Laurence JZ, Moon RC. Four cases of “retinitis pigmentosa” occurring in the same family, and
accompanied by general imperfections of development. Ophthalmol Rev 1866;2:32-41.
4. Leppert M, Baird L, Anderson KL, et al. Bardet-Biedl syndrome is linked to DNA markers on
chromosome 11q and is genetically heterogeneous. Nat Genet 1994;7:108-12.
5. Kwitek-Black AE, Carmi R, Duyk GM, et al. Linkage of Bardet-Biedl syndrome to chromosome 16q
and evidence for non-allelic genetic heterogeneity. Nat Genet 1993;5:392-6.
6. Sheffield VC, Carmi R, Kwitek-Black A, et al. Identification of a Bardet-Biedl syndrome locus on
chromosome 3 and evaluation of an efficient approach to homozygosity mapping. Hum Mol Genet
1994;3:1331-5.
7. Carmi R, Rokhlina T, Kwitek-Black AE, et al. Use of a DNA pooling strategy to identify a human
obesity syndrome locus on chromosome 15. Hum Mol Genet 1995;4:9-13.
8. Beales PL, Warner AM, Hitman GA, et al. Bardet-Biedl syndrome: a molecular and phenotypic study
of 18 families. J Med Genet 1997;34:92-8.
9. Bruford EA, Riise R, Teague PW, et al. Linkage mapping in 29 Bardet-Biedl syndrome families
confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21.Genomics 1997;41:93-9.
10. Ansley SJ, Badano JL, Blacque OE, Hill J, Hoskins BE, Leitch CC, Kim JC, Ross AJ, Eichers ER,
Teslovich TM, Mah AK, Johnsen RC, Cavender JC, Lewis RA, Leroux MR, Beales PL, Katsanis N
(October 2003). "Basal body dysfunction is a likely cause of pleiotropic Bardet–Biedl syndrome".
Nature 425 (6958):628–33.
11. Ansley SJ, Badano JL, Blacque OE, Hill J, Hoskins BE, Leitch CC, et al. Basal body dysfunction is a
likely cause of pleiotropic Bardet-Biedl syndrome. Nature 2003; 425:628-633.
12. Li JB, Gerdes JM, Haycraft CJ, Fan Y, Teslovich TM, May-Simera H, et al. Comparative genomics
identifies a flagellar and basal body proteome that includes the BBS5 human disease gene. Cell 2004;
117:541-552.
13. Blacque OE, Reardon MJ, Li C, McCarthy J, Mahjoub MR, Ansley S, et al. Loss of C. Elegans BBS-7
and BBS-8 protein function results in cilia defects and compromised intraflagellar transport. Genes
Dev 2004; 18:1630-1642.
14. Pazour GJ, Rosenbaum JL. Intraflagellar transport and cilia-dependent diseases. Trends Cell Biol
2000;12:551–555.

Thank you for copying data from http://www.arastirmax.com