Patient with Bardet-Biedl syndrome presenting with nystagmus at fifteen months of age

Journal of AAPOS

Volumn 5, Issue 4, 2001, Pages 262-264

  Musarella, Maria A ^a,b  

^a LONG ISLAND COLLEGE HOSPITAL   (United States)

^b SUNY DOWNSTATE MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BARDET BIEDL SYNDROME; CASE REPORT; CONGENITAL MALFORMATION; EYE FUNDUS; FOLLOW UP; HUMAN; INFANT; KIDNEY; MALE; MULTIPLE MALFORMATION SYNDROME; NYSTAGMUS; OBESITY; RETINITIS PIGMENTOSA; SYNDACTYLY;

ABNORMALITIES, MULTIPLE; BARDET-BIEDL SYNDROME; FOLLOW-UP STUDIES; FUNDUS OCULI; HUMANS; INFANT; KIDNEY; MALE; NYSTAGMUS, PATHOLOGIC; OBESITY; RETINITIS PIGMENTOSA; SYNDACTYLY;

EID: 0035431062     PISSN: 10918531     EISSN: None     Source Type: Journal    
DOI: 10.1067/mpa.2001.115592     Document Type: Article

References (11)

1. Campo RV, Aaberg TM. Ocular and systemic manifestations of the Bardet-Biedl syndrome. Am J Ophthalmol 1982;94:750-6.
2. Green JS, Parfey PS, Hartnett JD, Farid NR, Cramer BC, Johnson G, et al. The cardinal manifestations of the Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome. N Engl J Med 1989;321:1002-9.
3. Jones KL, Smith DW. Recognizable patterns of human malformation. 5th ed. Philadelphia: WB Saunders Co; 1997. p. 590-1.
4. Anderson KL, Lewis RA. Bardet-Biedl syndrome. J Rare Dis 1997; 3:5-10.
5. McKusick VA, editor. Online Mendelian Inheritance of Man (OMIM). National Center for Biotechnology Information Web site. National Library of Medicine (Bethesda, MD); 1999. Available at: http://www.ncbi.nlm.nih.gov/Omim. Accessed March 27, 2001.
6. Leppert M, Baird L, Anderson KL, Otterbud B, Lupski JR, Lewis RA. Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous. Nat Genet 1994;7:108-12.
7. Bruford EA, Ruse R, Teague PW, Porter K, Thompson KI, Moore AT, 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.
8. Sheffield VC, Carmi R, Kwick-Black A, Rokhlina T, Nishimura D, Duyk GM, 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;31:331-5.
9. Young TL, Penney L, Woods MO, Parfrey PS, Green JS, Hefferton D, et al. A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31 [letter]. AmJ Hum Genet 1999;64:900-4.
10. Katsanis N, Beales PL, Woods MO, Lewis RA, Green JS, Parfrey PS, Ansley SJ, et al. Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. Nat Genet 2000;26:67-70.
11. Slavotinek AM, Stone EM, Mykytyn K, Heckenlively JR, Green JS, Heon E, et al. Mutations in MKKS cause Bardet-Biedl syndrome. Nat Genet 2000;26:15-6.