Laurence Moon Bardet Biedel syndrome: A case report

Abstract

Laurence Moon Bardet Biedl syndrome is characterized by obesity, retinitis pigmentosa, hypogonadism, mental retardation and polydactyly. Additionally renal, cardiac and neurological manifestations may be seen. We report here a case with the syndrome that also had chronic renal disease.

Keywords

• Laurence Moon Bardet Biedl syndrome, chronic renal disease, child

Laurence Moon Bardet Biedel syndrome: A case report

Abstract

Laurence Moon Bardet Biedl sendromu obezite, retinitis pigmentoza, hipogonadizm, mental retardasyon ve polidaktili ile karakterize bir hastalıktır. Ana bulgulara ek olarak renal, kardiyak ve nörolojik tutulum da görülebilmektedir. Burada kronik böbrek yetmezliği gelişmiş bir olgu sunulacaktır.

Keywords

• Laurence Moon Bardet Biedl sendromu, kronik böbrek yetmezliği, çocuk

References

1. Erol N, Özer K, Türkmen A, Yavrucu S, Özgüner A. Lau- rence Moon Biedl Sendromu. Ulaşılabileceği adres: http:// www.nurdanerol.com/services.html
2. Ucar B, Yakut A, Kural N, Büyükaşık F, Vardareli E. Renal ınvolvement in the Laurence Moon Bardet Biedl syndrome: Report of five cases. Pediatr Nephrol 1997;11(1):31-5.
3. Elbedour K, Zucker N, Zalzstein E, Barki Y, Carmi R. Car- diac abnormalities in the Bardet Biedl syndrome: Echo- cardiographic studies of 22 patients. Am J Med Genet 1994;52(2):164-9.
4. Karaman A, Bardet-Biedl syndrome: A case report. Derma- tology Online J 2008;14(1):9.
5. Özer G, Yüksel B, Süleymanova D, Alhan E, Demircan N, Önenli N. Clinical features of Bardet Biedl syndrome. Acta Paediatr Jpn 1995;37(2):233-6.
6. Doğan İ, Sağer S, Altun G, Uslu İ, Kabasakal L. Lauren- ce Moon Bardet Biedel sendromunda renal tutulum: Bir olgu sunumu ve literatür derlemesi. Turk J Nucl Med 2003;12(4):166-9.
7. Laurence JZ, Moon RC. Four cases of retinitis pigmentosa occurring in the same family and accompanied by general imperfection of development. Ophthalmic Rev 1866;2:32- 41.
8. Bardet G, Sur un syndrome d’obésité infantile avec poly- dactylie et rétinite pigmentaire: Contribution à l’étude des formes cliniques de l’obésité hypoglycémique; thesis. Paris 1920;No:479.

9. Biedl A, Ein Geschwisterpaar mit adiposogenitaler Dystro- phie. Dtsch Med Wochenschr 1922;48:1630.
10. McKusick VA, Mendelian Inheritance in Man. ed 11. Balti- more, Johns Hopkins University Press 1994.
11. Katsanis N, Lupski JR, Beales PL. Exploring the molecular basis of Bardet-Biedl syndrome. D- Human Molecular Ge- netics 2001;10(20):2293-9.
12. Stoetzel C, Muller J, Laurier V, Davis EE, Zaghloul NA. Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-re- lated proteins in Bardet-Biedl syndrome. Am J Hum Genet 2007;80(1):1-11.
13. Beales PL. Lifting the lid on Pandora’s box: the Bardet- Biedl syndrome. Curr Opin Genet Dev 2005;15(3):315-23.
14. Azari AA, Aleman TS, Cideciyan AV, Schwartz SB. Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration. Invest Ophthalmol Vis Sci 2006;47(11):5004-10.
15. Stoetzel C, Laurier V, Davis EE, Muller J. BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nat Genet 2006;38(5):521-4.
16. Forti E, Aksanov O, Birk RZ. Links Temporal expression pattern of Bardet-Biedl syndrome genes in adipogenesis. Int J Biochem Cell Biol 2007;39(5):1055-62.
17. Fulton AB, Hansen RM, Glynn RJ. Natural course of visual functions in the Bardet-Biedl syndrome. Arch Ophthalmo 1993;111(11):1500-6.
18. Riise R, Andreasson S, Wright AF, Tornqvist K. Ocular Findings in the Laurence Moon Bardet Biedl Syndrome. Acta Ophthalmol Scand 1996;74(6):612-7.
19. 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(6):437-46.
20. Beales PL, Warner AM, Hitman GA, Thajjer R, Flinter FA. Bardet Biedl Syndrome: A molecular and phenotypic study of 18 families. J Med Genetic 1997;34(2):92-8.
21. Jones KI. Bardet-Biedl syndrome. Smith’s Recognizable Patterns of Human Malformation 5th edition, Saunders company; 1997;590-1.
22. Rudling O, Riise R, Tornqvist K, Jonsson K. Skeletal abnor- malities of hands and feet in Laurence Moon Bardet Biedl (LMBB) syndrome: A Radiographic study. Skeletal Radiol 1996;25(7):655-60.
23. Stoler JM, Herrin JT, Holmes LB. Genital abnormalities in females with Bardet-Biedl syndrome. Am J Med Genet 1995;55(3):276-8.
24. Dippell J, Varlam DE. Early sonographic aspects of kidney morphology in Bardet-Biedl syndrome. Pediatr Nephrol 1998;12(7):559-63.
25. Harnett JD, Green JS, Cramer BC, Johnson G, Chafe L. The spectrum of renal disease in Laurence-Moon-Biedl syndrome. N Engl J Med 1988;319(10):615-8.