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Prenatal phenotype of Kabuki syndrome: A case series and literature review.

Po Lam SoHo Ming LukKa-Wang CheungWinnie HuiMan Yan ChungAnnisa S L MakWing Yi LokKris Pui Tak YuShirley S W ChengEdgar W L HauStephanie HoStephen T S LamIvan F M Lo
Published in: Prenatal diagnosis (2021)
These cases demonstrate the prenatal phenotypic heterogeneity associated with KS. Although the ultrasound abnormalities are non-specific, KS should be considered in the differential diagnosis when these fetal findings following normal microarray analysis/karyotyping.
Keyphrases
  • pregnant women
  • case report
  • magnetic resonance imaging
  • computed tomography
  • bioinformatics analysis