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Prenatal Diagnosis of Fetal Exencephaly Associated with Amniotic Band Sequence at 17 Weeks of Gestation by Fetal Magnetic Resonance Imaging

Autor: Susan Blaser, L Velsher, James M. Drake, David Chitayat, Marianne Rohrbach, W L Sirkin

Publikováno v: Fetal Diagnosis and Therapy. 22:112-115

We report a fetus with exencephaly diagnosed by fetal magnetic resonance imaging (MRI) at 17 weeks of gestation. Fetal ultrasound performed at 13 and 17 weeks of gestation suggested occipital encephalocele. However, the fetal MRI done at 17 weeks of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9852ad9cfb69dd388663e40d97a1550
https://doi.org/10.1159/000097107

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Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G--C genotype

Autor: M J, Nowaczyk, S A, Farrell, W L, Sirkin, L, Velsher, P A, Krakowiak, J S, Waye, F D, Porter

Publikováno v: American journal of medical genetics. 103(1)

Smith-Lemli-Opitz syndrome (RHS) (SLOS, OMIM 270400) is an autosomal recessive disorder of cholesterol biosynthesis caused by mutations of the 3beta-hydroxysterol Delta(7)-Delta(8)-reductase gene, DHCR7. We report a fetus with holoprosencephaly and m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d6bf2e47bf923bef890e6b46fcf1b284
https://pubmed.ncbi.nlm.nih.gov/11562938

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