title: Immotile cilia syndrome including polysplenia, situs inversus, and extrahepatic biliary atresia.
abstract: 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.
authors.affiliation: Department of Genetics, Rambam Medical Center, Haifa, Israel.
authors.forename: R
authors.initials: R
authors.lastname: Gershoni-Baruch
authors.forename: E
authors.initials: E
authors.lastname: Gottfried
authors.forename: M
authors.initials: M
authors.lastname: Pery
authors.forename: A
authors.initials: A
authors.lastname: Sahin
authors.forename: A
authors.initials: A
authors.lastname: Etzioni
mesh_terms: D001656:Biliary Atresia / Q000175:diagnosis*; D002648:Child; D002925:Ciliary Motility Disorders / Q000235:genetics*; D003241:Consanguinity; D006801:Humans; D007223:Infant; D007619:Kartagener Syndrome / Q000175:diagnosis*; D008297:Male; D008854:Microscopy, Electron; D012857:Situs Inversus / Q000175:diagnosis*; D013154:Spleen / Q000002:abnormalities*; D014463:Ultrasonography