Prenatal diagnosis of holoprosencephaly associated with Smith–Lemli–Opitz syndrome (SLOS) in a 46,XX fetus

Objective: To show the importance of measuring cholesterol precursor levels in amniotic fluid in all pregnancies with ultrasound features (such as holoprosencephaly) suggestive of Smith–Lemli–Opitz syndrome (SLOS), after exclusion of chromosomal anomalies. Case report: A 28-year-old woman, gravida 1...

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Hlavní autoři:	André Travessa, Patrícia Dias, Pedro Rocha, Ana Berta Sousa
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Elsevier 2017-08-01
Edice:	Taiwanese Journal of Obstetrics & Gynecology
Témata:	Cholesterol Dehydrocholesterols Holoprosencephaly Prenatal diagnosis Smith–Lemli–Opitz syndrome
On-line přístup:	http://www.sciencedirect.com/science/article/pii/S1028455917301547
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