title: Case report: a prenatal case of Jarcho-Levin syndrome diagnosed during the first trimester of pregnancy.
abstract: 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.
authors.affiliation: Pluridisciplinary Prenatal Diagnosis Center, Groupe Hospitalier Sud Réunion, Saint-Pierre Cedex, France.
authors.forename: Edouard
authors.initials: E
authors.lastname: Kauffmann
authors.forename: Horatiu
authors.initials: H
authors.lastname: Roman
authors.forename: Georges
authors.initials: G
authors.lastname: Barau
authors.forename: Hervé
authors.initials: H
authors.lastname: Dumas
authors.forename: Annick
authors.initials: A
authors.lastname: Laffitte
authors.forename: Alain
authors.initials: A
authors.lastname: Fourmaintraux
authors.forename: Marc
authors.initials: M
authors.lastname: Bintner
authors.forename: Hanitra
authors.initials: H
authors.lastname: Randrianaivo
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D000025:Abortion, Eugenic; D000328:Adult; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging*; D005260:Female; D006801:Humans; D007674:Kidney Diseases / Q000151:congenital / Q000000981:diagnostic imaging*; D009333:Neck / Q000002:abnormalities* / Q000196:embryology; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D012272:Ribs / Q000002:abnormalities* / Q000000981:diagnostic imaging; D016135:Spinal Dysraphism / Q000000981:diagnostic imaging*; D013577:Syndrome; D016216:Ultrasonography, Prenatal