Bardet-Biedl syndrome: A rare case report from North India

Indian Journal of Dermatology, Venereology and Leprology

Volumn 78, Issue 2, 2012, Pages 228-

  Kumar, Sumir ^a   Mahajan, Bharat ^a   Mittal, Jyotisterna ^a  

^a GGS Medical College & Hospital Faridkot   (India)

Author keywords

Bardet Biedl syndrome; ciliopathy; hypogonadism

Indexed keywords

ADOLESCENT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BARDET BIEDL SYNDROME; CASE REPORT; CLINICAL FEATURE; CONDUCTION DEAFNESS; EYE EXAMINATION; FATTY LIVER; HUMAN; HYPOGONADISM; INDIA; KIDNEY CORTEX; LIVER DYSFUNCTION; MALE; MENTAL DEFICIENCY; OBESITY; POLYDACTYLY; RARE DISEASE; RETINA DYSTROPHY;

ADOLESCENT; BARDET-BIEDL SYNDROME; HUMANS; HYPOGONADISM; INDIA; INTELLECTUAL DISABILITY; MALE; OBESITY; RETINAL DYSTROPHIES;

EID: 84859366746     PISSN: 03786323     EISSN: 09733922     Source Type: Journal    
DOI: 10.4103/0378-6323.93656     Document Type: Article

References (8)

1. 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;36:437-46.
2. Klein D, Ammann F. The syndrome of Laurence-Moon- Bardet-Biedl and allied diseases in Switzerland. Clinical, genetic and epidemiological studies. J Neurol Sci 1969;9:479-513.
3. Hooda AK, Karan SC, Bishnoi JS, Nandwani A, Sinha T. Renal transplant in a child with Bardet-Biedl syndrome: A rare cause of end-stage renal disease. Indian J Nephrol 2009;19:112-4.
4. Moore SJ, Green JS, Fan Y, Bhogal AK, Dicks E, Fernandez BA, et al. Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: A 22-year prospective, populationbased, cohort study. Am J Med Genet 2005;132:352-6.
5. Prosperi L, Cordella M, Bernasconi S. Electroretinography and diagnosis of the Laurence-Moon-Bardet-Biedl syndrome in childhood. J Pediatr Ophthalmol 1977;14:305-8.
6. Green JS, Parfrey PS, Harnett JD, Farid NR, Cramer BC, Johnson G, et al. The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome. N Engl J Med 1989;321:1002-9.
7. Nachury MV, Loktev AV, Zhang Q, Westlake CJ, Peranan J, Merdes A, et al. A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis. Cell 2007;129:1201-13.
8. Dervisoglu E, Isgoren S, Kasgari D, Demir H, Yilmaz A. Obesity control and low protein diet preserve or even improve renal functions in Bardet-Biedl syndrome: A report of two cases. Med Sci Monit 2011;17:12-4.