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[Laurence-Moon-Bardet-Biedl syndrome].

B Lofterød1, R Riise, T Skuseth

  • 1Sentralsykehuset for Ostfold, Fredrikstad.

Nordisk Medicin
|January 1, 1990
PubMed
Summary

Laurence-Moon-Biedl syndrome (LMBB) affects 1 in 128,000 individuals in Norway. Cardinal signs include vision loss, obesity, and extra fingers/toes, with most patients exhibiting normal intelligence.

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Area of Science:

  • Genetics and rare diseases
  • Ophthalmology
  • Pediatrics

Context:

  • A 1984 Norwegian registry identified 32 individuals with Laurence-Moon-Bardet-Biedl syndrome (LMBB).
  • The prevalence rate was determined to be 1 in 128,000 inhabitants.
  • A multidisciplinary team at Frambu Health Centre provided comprehensive care to 26 patients.

Purpose:

  • To document the prevalence and clinical manifestations of Laurence-Moon-Bardet-Biedl syndrome in Norway.
  • To assess the cardinal signs and associated features of LMBB.
  • To investigate the cognitive status of individuals with LMBB, challenging the assumption of universal intellectual disability.

Summary:

  • The study identified 32 cases of Laurence-Moon-Bardet-Biedl syndrome (LMBB) in Norway, with a prevalence of 1 in 128,000.
  • Key clinical features observed were retinitis pigmentosa, obesity, polydactyly, and dental anomalies, with hypogenitalism noted in many.
  • Contrary to common belief, most patients appeared to have normal intelligence, warranting further investigation.

Impact:

  • Provides crucial epidemiological data on Laurence-Moon-Bardet-Biedl syndrome in a specific population.
  • Highlights the importance of a multidisciplinary approach in managing rare genetic disorders.
  • Challenges existing perceptions regarding cognitive impairment in LMBB, suggesting a need for re-evaluation.

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