Bardet-Biedl syndrome and related disorders

Arch Ophthalmol. 1982 Feb;100(2):285-8. doi: 10.1001/archopht.1982.01030030287011.

Abstract

The Bardet-Beidl 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.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Cataract / complications
  • Child, Preschool
  • Genitalia / abnormalities
  • Humans
  • Infant
  • Infant, Newborn
  • Intellectual Disability / diagnosis
  • Laurence-Moon Syndrome / diagnosis*
  • Male
  • Obesity / diagnosis
  • Retinal Degeneration / diagnosis*
  • Toes / abnormalities*