Mild fetal cerebral ventriculomegaly as a prenatal sonographic marker for Kartagener syndrome.
Primary ciliary dyskinesia (PCD), also referred to as immotile-cilia syndrome or Kartagener syndrome, is a group of genetic disorders caused by defective cilia leading to chronic sinupulmonary infection, situs inversus and reduced fertility. Some PCD patients also have cerebral ventriculomegaly or hydrocephalus. We report here two fetuses and one newborn with mild cerebral ventriculomegaly and a suspected and/or confirmed diagnosis of PCD. These cases demonstrate that mild fetal cerebral ventriculomegaly can be a prenatal sonographic marker of PCD, certainly in fetuses with situs inversus or a history of a previous sib with PCD.
Wessels
Marja W
MW
Department of Clinical Genetics, Erasmus University Medical Centre, Westzeedijk 112, 3016 AH Rotterdam, The Netherlands. wessels@kgen.azr.nl
den Hollander
Nicolette S
NS
Willems
Patrick J
PJ
D002552:Cerebral Ventricles / Q000000981:diagnostic imaging* / Q000196:embryology*; D003241:Consanguinity; D005260:Female; D006801:Humans; D007619:Kartagener Syndrome / Q000000981:diagnostic imaging*; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D016216:Ultrasonography, Prenatal