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Ultrasonographic Diagnosis of Jarcho-Levin Syndrome at 20 Weeks’ Gestation in a Fetus without Previous Family History

del Río Holgado M.a · Martínez J.M.a · Gómez O.a · Casals G.a · Bargalló N.b · Fortuny A.a · Puerto B.a

Author affiliations

aDepartment of Obstetrics and Gynecology, ICGON, and bRadiology Department, Imaging Diagnosis Center, Hospital Clínic, University of Barcelona, Barcelona, Spain

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Fetal Diagn Ther 2005;20:136–140

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Article / Publication Details

First-Page Preview
Abstract of Paper

Received: August 06, 2003
Accepted: January 22, 2004
Published online: February 11, 2005
Issue release date: March – April

Number of Print Pages: 5
Number of Figures: 3
Number of Tables: 0

ISSN: 1015-3837 (Print)
eISSN: 1421-9964 (Online)

For additional information: https://www.karger.com/FDT

Abstract

Jarcho-Levin syndrome (JLS; spondylothoracic dysplasia) is a congenital disease characterized by multiple vertebral and rib malformations, causing a short trunk dwarfism commonly leading to respiratory insufficiency and death during the first years of life. We describe a case diagnosed during the second trimester routine ultrasound scan for screening of fetal anomalies without a previous family history. The fetus had a severe disorganization of the spine and ribs, skeletal kyphosis, with several hemivertebrae and a small thorax. All of the findings at postmortem examination confirmed the ultrasound features and were consistent with the JLS. To the best of our knowledge there is only one case reported in the literature of a prenatal diagnosis of the syndrome in a family with low risk for the condition.

© 2005 S. Karger AG, Basel


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    External Resources
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Article / Publication Details

First-Page Preview
Abstract of Paper

Received: August 06, 2003
Accepted: January 22, 2004
Published online: February 11, 2005
Issue release date: March – April

Number of Print Pages: 5
Number of Figures: 3
Number of Tables: 0

ISSN: 1015-3837 (Print)
eISSN: 1421-9964 (Online)

For additional information: https://www.karger.com/FDT


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