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Case report: a prenatal case of Jarcho–Levin syndrome diagnosed during the first trimester of pregnancy
Author(s) -
Kauffmann Edouard,
Roman Horatiu,
Barau Georges,
Dumas Hervé,
Laffitte Annick,
Fourmaintraux Alain,
Bintner Marc,
Randrianaivo Hanitra
Publication year - 2003
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.549
Subject(s) - pregnancy , medicine , prenatal diagnosis , first trimester , autopsy , obstetrics , pediatrics , fetus , pathology , biology , genetics
The Jarcho–Levin syndrome is a specific form of spondylocostal/spondylothoracic dysostosis. There have been various classifications of this syndrome. We present the case of a severe prenatal Jarcho–Levin syndrome, diagnosed by ultrasound examination during the first trimester of pregnancy in a family with no previous medical history of an affected child. X‐ray exploration, high‐resolution spiral computed tomography and autopsy confirmed the diagnosis. Copyright © 2003 John Wiley & Sons, Ltd.