期刊
PRENATAL DIAGNOSIS
卷 23, 期 3, 页码 239-242出版社
WILEY
DOI: 10.1002/pd.551
关键词
fetal cerebral ventriculomegaly; Kartagener syndrome; primary ciliary dyskinesia (PCD); prenatal diagnosis
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. Copyright (C) 2003 John Wiley Sons, Ltd.
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