This Article  • References  • Full text PDF  • Reply to article  • Send to a friend  • Save in My Folder  • Save to citation manager  • Permissions  Citing Articles  • Citation map  • Citing articles on HighWire  • Citing articles on Web of Science (100)  • Contact me when this article is cited  Related Content  • Similar articles in this journal  Social Bookmarking   What's this?

Andrew P. Schachat, MD; Irene H. Maumenee, MD

Arch Ophthalmol. 1982;100(2):285-288.

Abstract
• The Bardet-Biedl and Laurence-Moon syndromes are distinct entities. The nosology of five syndromes combining ocular and/or auditory defects, mental retardation, genital hypoplasia, obesity, and digital anomalies is reviewed. A 32-month-old boy had an unusual condition that may represent a sixth entity.

Author Affiliations
From the Wilmer Ophthalmological Institute, The Johns Hopkins Medical Institutions, Baltimore.

Footnotes
Accepted for publication Feb 20, 1981.

Reprint requests to Wilmer Ophthalmological Institute, The Johns Hopkins Hospital, 600 N Wolfe St, Baltimore, MD 21205 (Dr Maumenee).

CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter     What's this?

THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES

Parathyroid hormone-responsive B1 gene is associated with premature ovarian failure
Kang et al.
Hum Reprod 2008;23:1457-1465.
ABSTRACT | FULL TEXT  

Bardet-biedl syndrome gene variants are associated with both childhood and adult common obesity in French Caucasians.
Benzinou et al.
Diabetes 2006;55:2876-2882.
ABSTRACT | FULL TEXT  

Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus
Badano et al.
Hum Mol Genet 2003;12:1651-1659.
ABSTRACT | FULL TEXT  

Retinal Function in Carriers of Bardet-Biedl Syndrome
Cox et al.
Arch Ophthalmol 2003;121:804-810.
ABSTRACT | FULL TEXT  

An infant with polydactyly and renal anomalies: early diagnosis of a rare syndrome
Magen et al.
Nephrol Dial Transplant 2002;17:2261-2264.
FULL TEXT  

Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)
Nishimura et al.
Hum Mol Genet 2001;10:865-874.
ABSTRACT | FULL TEXT  

Renal cancer and malformations in relatives of patients with Bardet-Biedl syndrome
Beales et al.
Nephrol Dial Transplant 2000;15:1977-1985.
ABSTRACT | FULL TEXT  

Bardet-Biedl and Cohen syndromes: differential diagnostic criteria
WARBURG et al.
J. Med. Genet. 2000;37:46e-46.
FULL TEXT  

Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes
David et al.
J. Med. Genet. 1999;36:599-603.
ABSTRACT | FULL TEXT  

New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey
Beales et al.
J. Med. Genet. 1999;36:437-446.
ABSTRACT | FULL TEXT  

Intrafamilial variation of the phenotype in Bardet-Biedl syndrome
Riise et al.
Br J Ophthalmol 1997;81:378-385.
ABSTRACT | FULL TEXT  

Natural Course of Visual Functions in the Bardet-Biedl Syndrome
Fulton et al.
Arch Ophthalmol 1993;111:1500-1506.
ABSTRACT  

A Family With the Bardet-Biedl Syndrome and Diabetes Mellitus
Escallon et al.
Arch Ophthalmol 1989;107:855-857.
ABSTRACT  

Seven Hereditary Syndromes with Pigmentary Retinopathy: A Review and Differential Diagnosis
Cantani et al.
CLIN PEDIATR 1985;24:578-583.
ABSTRACT