Clinical features of Bardet-Biedl syndrome

Acta Paediatr Jpn. 1995 Apr;37(2):233-6. doi: 10.1111/j.1442-200x.1995.tb03306.x.


Six patients with Bardet-Biedl syndrome who have been followed in our clinics for the last 5 years are reported in this study. Of the five classic features of this syndrome; obesity and mental retardation were present in all cases, retinal disturbances were present in five, polydactyly in three and hypogenitalism was observed in all four male patients. Renal involvement, often suggested as a cardinal feature of this syndrome, was described in two patients. Iron deficiency anemia occurred in three patients, two patients were of short stature, one patient presented with an empty sella, and in two patients clinodactyly was detected. The results are compared to previously published literature and discussed.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Child
  • Child, Preschool
  • Female
  • Humans
  • Laurence-Moon Syndrome* / metabolism
  • Laurence-Moon Syndrome* / pathology
  • Male