First Prenatal Diagnosis of a Niemann–Pick Disease Type C2 Revealed by a Cystic Hygroma: A Case Report and Review of the Literature

First Prenatal Diagnosis of a Niemann–Pick Disease Type C2 Revealed by a Cystic Hygroma: A Case Report and Review of the Literature

BackgroundThe importance of fetal nuchal translucency was highlighted in the early 1990s as a useful first-trimester marker to identify fetal chromosomal abnormalities. Here, we report the prenatal diagnosis of a fetus with Niemann–Pick disease type C initially identified by first-trimester ultrason...

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Bibliographic Details
Main Authors: Liana Ples, Romina-Marina Sima, Florina Nedelea, Marius Moga
Format: Article
Language:English
Published: Frontiers Media S.A. 2018-06-01
Series:Frontiers in Endocrinology
Subjects:
cystic hygroma
unusual association
Niemann–Pick disease
prenatal diagnosis
homozygous mutation
Online Access:https://www.frontiersin.org/article/10.3389/fendo.2018.00292/full

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https://www.frontiersin.org/article/10.3389/fendo.2018.00292/full

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