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Vol. 20, No. 2, 2005
Issue release date: March–April 2005

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

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



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References

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    External Resources

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  20. Whitlow BJ, Economides DL: The optimal gestational age to examine fetal anatomy and measure nuchal translucency in the first trimester. Ultrasound Obstet Gynecol 1998;11:258–261.
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  22. Johnson DD, Pretorius DH, Riccabona M, Budorick NE, Nelson TR: Three-dimensional ultrasound of the fetal spine. Obstet Gynecol 1997;89:434–438.
  23. Hull AD, James G, Pretorius DH: Detection of Jarcho-Levin syndrome at 12 weeks’ gestation by nuchal translucency screening and three-dimensional ultrasound. Prenat Diag 2001;21:390–394.


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