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Bardet-Biedl Syndrome and Related Disorders

1982; American Medical Association; Volume: 100; Issue: 2 Linguagem: Inglês

10.1001/archopht.1982.01030030287011

1538-3601

Andrew Schachat, Irene H. Maumenee,

Biomedical Research and Pathophysiology

• 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.