title: [Prenatal diagnosis of Smith-Lemli-Opitz syndrome--case report].
abstract: Smith-Lemli-Opitz syndrome (SLOS) is a hereditary, autosomal recessive abnormality of cholesterol metabolism, leading to malformations of multiple organs. It is probably one of the most frequent metabolic disorders but variable clinical presentation makes the diagnosis of the syndrome difficult. The authors of the following work present a case report of prenatal diagnosis of SLOS in fetus with malformations of multiple organs and negative family history.
authors: Oddział Ginekologii, Połoznictwa i Patologii Ciazy Wielospecjalistycznego Szpitala Miejskiego im. E. Warmińskiego w Bydgoszczy.
authors: Anna
authors: A
authors: Lauda-Swieciak
authors: Barbara
authors: B
authors: Przybył
authors: Katarzyna
authors: K
authors: Moszczyńska
authors: Jacek
authors: J
authors: Skórczewski
authors: Jarosław
authors: J
authors: Lach
authors: Jarosław
authors: J
authors: Szułczyński
authors: Grzegorz
authors: G
authors: Ludwikowski
authors: Mariusz
authors: M
authors: Dubiel
mesh_terms: D017809:Fatal Outcome; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D019082:Smith-Lemli-Opitz Syndrome / Q000175:diagnosis* / Q000235:genetics