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- Title
Ultrasonographic diagnosis of Jarcho-Levin syndrome at 20 weeks' gestation in a fetus without previous family history.
- Authors
Del Río Holgado, María; Martínez, Josep M.; Gömez, Olga; Casals, Gemma; Bargalló, Nuria; Fortuny, Albert; Puerto, Bienvenido; del Río Holgado, María; Martínez, Josep M; Gómez, Olga; Bargalló, Nuria
- 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.
- Subjects
PRENATAL diagnosis; SECOND trimester of pregnancy; ULTRASONIC imaging; DYSOSTOSIS; GENETIC disorders
- Publication
Fetal Diagnosis & Therapy, 2005, Vol 20, Issue 2, p136
- ISSN
1015-3837
- Publication type
journal article
- DOI
10.1159/000082438