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Expanding the differential diagnosis of fetal hydrops: an unusual prenatal presentation of megalencephaly-capillary malformation syndrome.

作者信息

Swarr Daniel T, Khalek Nahla, Treat James, Horton Margaret A, Mirzaa Ghayda M, Riviere Jean-Baptiste, Dobyns William B, Zackai Elaine H

机构信息

Division of Human Genetics, Department of Pediatrics, University of Pennsylvania School of Medicine and The Children's Hospital of Philadelphia, Philadelphia, PA, USA; Division of Neonatology, Department of Pediatrics, University of Pennsylvania School of Medicine and The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

出版信息

Prenat Diagn. 2013 Oct;33(10):1010-2. doi: 10.1002/pd.4178. Epub 2013 Jul 23.

DOI:10.1002/pd.4178
PMID:23754335
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3962827/
Abstract
摘要

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Nat Genet. 2012 Jun 24;44(8):934-40. doi: 10.1038/ng.2331.
2
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3
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-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.与发育障碍相关的疾病表现出不同类别的突变，其表达和组织分布具有可变性。
JCI Insight. 2016 Jun 16;1(9). doi: 10.1172/jci.insight.87623.
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Prenatal diagnosis of CLOVES syndrome confirmed by detection of a mosaic PIK3CA mutation in cultured amniocytes.通过检测培养羊水中的镶嵌性PIK3CA突变确诊CLOVES综合征的产前诊断。
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Macrocephaly-capillary malformation: Analysis of 13 patients and review of the diagnostic criteria.
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