EP07.27: Prenatal diagnosis of Jarcho‐Levin syndrome in the second trimester

Jarcho-Levin syndrome is a congenital segmental costovertebral deformity with an estimated prevalence of 1 in 200,000 worldwide, transmitted autosomal recessively. It presents with multiple vertebral anomalies and numerical or structural abnormalities of the ribs, giving the chest a “crabbed” appearance leading to thoracic restriction that causes severe cardiac and respiratory complications and frequent chest infections. We describe a prenatal ultrasound diagnosis of Jarcho-Levin syndrome in the second trimester of pregnancy. A 36-year-old woman, with a history of inbreeding, who consulted for a morphological ultrasound scan at 21 weeks' amenorrhea revealing various anomalies: a short neck, a narrow axe-shaped thorax, reduced lung volume, an intracardiac spot at the left ventricular pillar, costovertebral dysostosis and a piano key spine with sacral agenesis. These ultrasonographic findings led to the suspicion of Jarcho-Levin syndrome. The couple were informed of the seriousness of the associated lesions and the poor prognosis; they requested termination of the pregnancy, which was carried out. Pathological and cytogenetic examination of the fetus also confirmed the diagnosis. In the majority of cases, the disease is diagnosed after birth, and prenatal diagnosis has rarely been reported. Lately, fetopathological examination confirmed the diagnosis. Research into gene mutations is underway in order to provide better genetic counselling. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.