title: Ultrasonographic diagnosis of Jarcho-Levin syndrome at 20 weeks' gestation in a fetus without previous family history.
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.
authors.affiliation: Department of Obstetrics and Gynecology, ICGON, Barcelona, Spain. Maria331973@hotmail.com
authors.forename: María
authors.initials: M
authors.lastname: del Río Holgado
authors.forename: Josep M
authors.initials: JM
authors.lastname: Martínez
authors.forename: Olga
authors.initials: O
authors.lastname: Gómez
authors.forename: Gemma
authors.initials: G
authors.lastname: Casals
authors.forename: Nuria
authors.initials: N
authors.lastname: Bargalló
authors.forename: Albert
authors.initials: A
authors.lastname: Fortuny
authors.forename: Bienvenido
authors.initials: B
authors.lastname: Puerto
mesh_terms: D000328:Adult; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging; D005865:Gestational Age; D006801:Humans; D007738:Kyphosis / Q000000981:diagnostic imaging; D008279:Magnetic Resonance Imaging; D008297:Male; D011247:Pregnancy; D012272:Ribs / Q000002:abnormalities*; D013131:Spine / Q000002:abnormalities*; D013577:Syndrome; D016216:Ultrasonography, Prenatal