Vol 78, No 3 (2007)
ARTICLES
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The Smith-Lemli-Opitz syndrome--case report, early diagnosis

Magdalena Paprotny, Aleksandra Jezela-Stanek, Małgorzata Baumert, Zofia Walencka, Ewa M Małunowicz, Jerzy Sikora
Ginekol Pol 2007;78(3).
Vol 78, No 3 (2007)
ARTICLES

Abstract

Smith-Lemli-Opitz syndrome (SLOS) is one of the most frequent metabolic disorders in Poland and manifests itself with multiple congenital anomalies, psychomotor delay and intellectual disability. It is caused by mutations in DHCR7 gene, which codes one of the cholesterol biosynthesis enzymes. Clinical diagnosis of the syndrome is difficult due to lack of pathognomonic features and their variable expression. Despite high carrier frequency in Poland, SLO syndrome is rarely suspected and recognized. Its early diagnosis is essential, mainly because of high genetic risk (25%) as well as possibilities of treatment. Authors present a female-newborn, diagnosed with SLOS during the neonatal period. The diagnosis was based on biochemical and molecular tests. Mutations in DHCR7 gene have been found in both, the child and the parents.

Abstract

Smith-Lemli-Opitz syndrome (SLOS) is one of the most frequent metabolic disorders in Poland and manifests itself with multiple congenital anomalies, psychomotor delay and intellectual disability. It is caused by mutations in DHCR7 gene, which codes one of the cholesterol biosynthesis enzymes. Clinical diagnosis of the syndrome is difficult due to lack of pathognomonic features and their variable expression. Despite high carrier frequency in Poland, SLO syndrome is rarely suspected and recognized. Its early diagnosis is essential, mainly because of high genetic risk (25%) as well as possibilities of treatment. Authors present a female-newborn, diagnosed with SLOS during the neonatal period. The diagnosis was based on biochemical and molecular tests. Mutations in DHCR7 gene have been found in both, the child and the parents.
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Keywords

Smith-Lemli-Opitz Syndrome

About this article
Title

The Smith-Lemli-Opitz syndrome--case report, early diagnosis

Journal

Ginekologia Polska

Issue

Vol 78, No 3 (2007)

Bibliographic record

Ginekol Pol 2007;78(3).

Keywords

Smith-Lemli-Opitz Syndrome

Authors

Magdalena Paprotny
Aleksandra Jezela-Stanek
Małgorzata Baumert
Zofia Walencka
Ewa M Małunowicz
Jerzy Sikora

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