A rare presentation of Bardet - Biedl syndrome with renal failure, severe osteodystrophy and multiple fractures [1]

Indian Journal of Human Genetics

Volumn 11, Issue 3, 2005, Pages 159-160

  Gupta, S ^a   Goel, D ^a,b   Singhal, A ^a  

^a HIMALAYAN INSTITUTE OF MEDICAL SCIENCES   (India)

^b C 46 HIMS ^*  (India)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AMENORRHEA; ANAMNESIS; BARDET BIEDL SYNDROME; CASE REPORT; CLINICAL FEATURE; DISEASE COURSE; FEMALE; FRACTURE; GROWTH DISORDER; HUMAN; KIDNEY FAILURE; LABORATORY TEST; LETTER; LIMB WEAKNESS; MENTAL DEVELOPMENT; MOTOR DEVELOPMENT; NIGHT BLINDNESS; OSTEODYSTROPHY; RETINITIS PIGMENTOSA; SCOLIOSIS; VISUAL DISORDER; VISUAL IMPAIRMENT;

EID: 31044433619     PISSN: 09716866     EISSN: None     Source Type: Journal    
DOI: 10.4103/0971-6866.19538     Document Type: Letter

References (3)

1. 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;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;36:437-46.
3. Ogun TC, Recep M, Yel M, Abdullah S. Bilateral pathologie femoral neck fracture as a consequence of renal osteodystrophy: Report of two cases and review of the literature. Arthroplasty arthroscopic surgery 2001;12:199-202.