open access

Vol 87, No 1 (2016)
ARTICLES
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Smith-Lemli-Opitz Syndrome- a challenging prenatal diagnosis

Agata Szpera-Goździewicz, Mariola Ropacka-Lesiak, Paweł Rzymski, Grzegorz H. Bręborowicz
DOI: 10.17772/gp/61327
·
Pubmed: 27306473
·
Ginekol Pol 2016;87(1):76-78.

open access

Vol 87, No 1 (2016)
ARTICLES

Abstract

Objectives: The aim of the study was to present a case of Smith-Lemli-Opitz syndrome (SLOS) in a fetus of a 33-year-old patient. At 31 weeks of gestation, the following fetal malformations were detected on an ultrasound: atrioventricular septal defect (AVSD), aortic coarctation, shortening of the lower limbs, narrow forehead, hyperthelorism, micrognathia, anteverted nares, ambiguous genitalia, and signs of intrauterine growth restriction. The baby died 11 days after birth. Further genetic screening of the parents revealed the 7-DHCR enzyme mutation in both of them. Although the prenatal diagnosis of SLOS presents a challenge due to the fact that little is known about its prenatal phenotype but it may be vital while attempting to treat the fetus in utero.

Abstract

Objectives: The aim of the study was to present a case of Smith-Lemli-Opitz syndrome (SLOS) in a fetus of a 33-year-old patient. At 31 weeks of gestation, the following fetal malformations were detected on an ultrasound: atrioventricular septal defect (AVSD), aortic coarctation, shortening of the lower limbs, narrow forehead, hyperthelorism, micrognathia, anteverted nares, ambiguous genitalia, and signs of intrauterine growth restriction. The baby died 11 days after birth. Further genetic screening of the parents revealed the 7-DHCR enzyme mutation in both of them. Although the prenatal diagnosis of SLOS presents a challenge due to the fact that little is known about its prenatal phenotype but it may be vital while attempting to treat the fetus in utero.
Get Citation

Keywords

Smith-Lemli-Opitz Syndrome, ultrasound, prenatal diagnosis

About this article
Title

Smith-Lemli-Opitz Syndrome- a challenging prenatal diagnosis

Journal

Ginekologia Polska

Issue

Vol 87, No 1 (2016)

Pages

76-78

DOI

10.17772/gp/61327

Pubmed

27306473

Bibliographic record

Ginekol Pol 2016;87(1):76-78.

Keywords

Smith-Lemli-Opitz Syndrome
ultrasound
prenatal diagnosis

Authors

Agata Szpera-Goździewicz
Mariola Ropacka-Lesiak
Paweł Rzymski
Grzegorz H. Bręborowicz

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