Article
Prenatal phenotype of Kabuki syndrome: A case series and literature review.
Prenatal diagnosis - 1 Aug 2021
So Po Lam, Luk Ho Ming, Cheung Ka Wang, Hui Winnie, Chung Man Yan, Mak Annisa S L, Lok Wing Yi, Yu Kris Pui Tak, Cheng Shirley S W, Hau Edgar W L, Ho Stephanie, Lam Stephen T S, Lo Ivan F M
Abstract excerpt
OBJECTIVES: Kabuki syndrome (KS) is a genetic disorder characterized by intellectual disability, facial dysmorphism and congenital anomalies. We aim to investigate the prenatal features of fetuses with KS and to provide a comprehensive review of the literature on prenatal sonographic abnormalities associated with KS. METHODS: We retrospectively reviewed the prenatal ultrasound findings of all mothers of children...
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