Splenic lobulations in Bardet-Biedl syndrome: a first case report

Genet Couns. 2006;17(3):295-300.

Abstract

Bardet-Biedl Syndrome (BBS) is a rare genetic disorder. It is considered to develop as a result of ciliary dysfunction. There are some clues about splenic expression of ciliary dysfunction. Therefore, splenic anomalies may be expected in BBS. We, here, describe a first case of BBS associated with splenic lobulations.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Bardet-Biedl Syndrome / diagnosis
  • Bardet-Biedl Syndrome / pathology*
  • Cilia
  • Female
  • Humans
  • Spleen / abnormalities*
  • Spleen / diagnostic imaging
  • Tomography, Emission-Computed, Single-Photon