Ultrasonographic Diagnosis of Jarcho-Levin Syndrome at 20 Weeks’ Gestation in a Fetus without Previous Family Historydel Río Holgado M. · Martínez J.M. · Gómez O. · Casals G. · Bargalló N. · Fortuny A. · Puerto B.
aDepartment of Obstetrics and Gynecology, ICGON, and bRadiology Department, Imaging Diagnosis Center, Hospital Clínic, University of Barcelona, Barcelona, Spain
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.
Dr María del Río Holgado
Urgel 282–284, 1º b.
ES–08036 Barcelona (Spain)
Tel. +34 932275567, Fax +34 932275605
Received: August 6, 2003
Accepted after revision: January 22, 2004
Number of Print Pages : 5
Number of Figures : 3, Number of Tables : 0, Number of References : 23
Fetal Diagnosis and Therapy (Clinical Advances and Basic Research)
Vol. 20, No. 2, Year 2005 (Cover Date: March-April 2005)
Journal Editor: W. Holzgreve, Basel; M.I. Evans, New York, N.Y.; H. Nakano, Fukuoka; S. Uzan, Paris; M. Michejda, Washington, D.C.; K.C. Pringle, Wellington; D. Surbek, Basel
ISSN: 1015–3837 (print), 1421–9964 (Online)
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