The Spectrum of Renal Disease in Laurence–Moon–Biedl Syndrome

New England Journal of Medicine

Volumn 319, Issue 10, 1988, Pages 615-618

  Harnett, John D ^a   Green, Jane S ^a   Cramer, Benvon C ^a   Johnson, Gordon ^a   Chafe, Linda ^a   Mcmanamon, Patrick ^a   Farid, Nadir R ^a   Pryse Phillips, William ^a   Parfrey, Patrick S ^a  

^a MEMORIAL UNIVERSITY OF NEWFOUNDLAND   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BARDET BIEDL SYNDROME; CLINICAL ARTICLE; HEREDITY; HUMAN; HYPOGONADISM; KIDNEY DISEASE; MENTAL DEFICIENCY; OBESITY; POLYDACTYLY; PRIORITY JOURNAL; RETINA DYSTROPHY; SPASTIC PARAPLEGIA;

EID: 0023789504     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJM198809083191005     Document Type: Article

References (16)

1. McKusick VA. Mendelian inheritance in man: catalogs of autosomal dominant, autosomal recessive, and X-linked phenotypes. 3rd ed. Baltimore: Johns Hopkins University Press, 1971:328.
2. Ammann F. Investigations cliniques et génétiques sur le syndrome de Bardet-Biedl en Suisse. J Genet Hum 1970; 18: Suppl: 1–310.
3. Laurence JZ, Moon RC. Four cases of retinitis pigmentosa occurring in the same family, and accompanied by general imperfections of development. Ophthalmic Rev (old series) 1866; 2: 32–41.
4. Bardet G. Sur un syndrome d'obésité congénitale avec polydactylie et rétinite pigmentaire (contribution à l'étude des formes cliniques de l'obésité hypophysaire). (Thesis. Paris: University of Paris, 1920.)
5. Discussion of: Biedl A. Ein Geschwisterpaar mit adiposo-genitaler Dystrophie. Dtsch Med Wochenschr 1922; 48: 1630.
6. Schachat AP, Maumenee IH. Bardet–Biedl syndrome and related disorders. Arch Ophthalmol 1982; 100: 285–8.
7. Churchill DN, McManamon P, Hurley RM. Renal disease — a sixth cardinal feature of the Laurence-Moon-Biedl syndrome. Clin Nephrol 1981; 16: 151–4.
8. Bauman ML, Hogan GR. Laurence–Moon–Biedl syndrome: report of two unrelated children less than 3 years of age. Am J Dis Child 1973; 126: 119–26.
9. Hurley RM, Dery P, Nogrady MB, Drummond KM. The renal lesion of the Laurence-Moon-Biedl syndrome. J Pediatr 1975; 87: 206–9.
10. Cockcroft DW, Gault MH. Prediction of creatinine clearance from serum creatinine. Nephron 1976; 16: 31–41.
11. Linné T, Wikstad L, Zetterström R. Renal involvement in Laurence–Moon–Biedl syndrome: functional and radiological studies. Acta Paediatr Scand 1986; 75: 240–4.
12. Alton DJ, McDonald P. Urographic findings in the Bardet–Biedl syndrome, formerly the Laurence–Moon–Biedl syndrome. Radiology 1973; 109: 659–63.
13. Bluett NH, Chantler C, Singer JD, Saxton HM. Congenital renal abnormalities in the Laurence–Moon–Biedl syndrome. Arch Dis Child 1977; 52: 968–70.
14. McLoughlin TG, Shanklin DR. Pathology of Laurence–Moon–Biedl syndrome. J Pathol Bacteriol 1967; 93: 65–79.
15. Okuyama A, Itatani H, Sonoda T. Angiographic findings in the kidney in the Laurence–Moon–Biedl syndrome. Br J Urol 1983; 55: 243–4.
16. Price D, Gartner JG, Kaplan BS. Ultrastructural changes in the glomerular basement membrane of patients with Laurence–Moon–Biedl–Bardet syndrome. Clin Nephrol 1981; 16: 283–8.