Bardet-Biedl Syndrome and Related Disorders

Andrew P. Schachat, Irene H. Maumenee

Research output: Contribution to journalArticlepeer-review

119 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)285-288
Number of pages4
JournalArchives of ophthalmology
Volume100
Issue number2
DOIs
StatePublished - Feb 1982
Externally publishedYes

ASJC Scopus subject areas

  • Ophthalmology

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