open access

Vol 80, No 10 (2009)
ARTICLES
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Prenatal diagnosis of Smith-Lemli-Opitz syndrome – case report

Mariusz Dubiel, Grzegorz Ludwikowski, Jarosław Szułczyński, Jarosław Lach, Jacek Skórczewski, Katarzyna Moszczyńska, Anna Lauda-Świeciak, Barbara Przybył
Ginekol Pol 2009;80(10).

open access

Vol 80, No 10 (2009)
ARTICLES

Abstract

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.

Abstract

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.
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Keywords

Smith-Lemil-Opitz syndrome, Steroid Metabolism, Inborn Errors, prenatal diagnosis

About this article
Title

Prenatal diagnosis of Smith-Lemli-Opitz syndrome – case report

Journal

Ginekologia Polska

Issue

Vol 80, No 10 (2009)

Bibliographic record

Ginekol Pol 2009;80(10).

Keywords

Smith-Lemil-Opitz syndrome
Steroid Metabolism
Inborn Errors
prenatal diagnosis

Authors

Mariusz Dubiel
Grzegorz Ludwikowski
Jarosław Szułczyński
Jarosław Lach
Jacek Skórczewski
Katarzyna Moszczyńska
Anna Lauda-Świeciak
Barbara Przybył

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