Immotile cilia syndrome including polysplenia, situs inversus, and extrahepatic biliary atresia

Am J Med Genet. 1989 Jul;33(3):390-3. doi: 10.1002/ajmg.1320330320.


Here we report on 2 sibs with immotile cilia syndrome (ICS), born to consanguineous Arab parents. Both had the Kartagener triad. In addition, one sib had polysplenia and extrahepatic biliary atresia. This observation, together with other literature reports, suggests that the occurrence of ICS with polysplenia and extrahepatic biliary atresia represent the result of a single dysmorphogenetic process. It is concluded that polysplenia and extrahepatic biliary atresia are rare and unusual manifestations of ICS.

MeSH terms

  • Biliary Atresia / diagnosis*
  • Child
  • Ciliary Motility Disorders / genetics*
  • Consanguinity
  • Humans
  • Infant
  • Kartagener Syndrome / diagnosis*
  • Male
  • Microscopy, Electron
  • Situs Inversus / diagnosis*
  • Spleen / abnormalities*
  • Ultrasonography