P44.10: Case report: a prenatal case of jarcho‐levin syndrome diagnosed during the second trimester of pregnancy

Abstract

Jarcho-Levin syndrome is an eponym that has been used to describe a variety of clinical phenotypes consisting of short-trunk dwarfism associated with rib and vertebral anomalies. The main characteristics are dwarfism with a very short thorax, ‘fan-like’ or ‘crab-like’ rib cage anomalies, multiple vertebral defects and frequent neural tube and urinary defects. Autosomal recessive and dominant inheritance has been described. Over 130 cases have been reported in the literature and in most cases, the diagnosis is made postnatally. We describe an ultrasound prenatal diagnosis of the Jarcho-Levin syndrome (JLS) during the second trimester of pregnancy in a family with no previous medical history. In our case, the fetus showed a short thorax with multiple vertebral defects. Termination of pregnancy at 22 weeks' gestation was performed on parents request, and fetal macroscopic examination confirmed the ultrasonographic findings. Jarcho-Levin syndrome (JLS) is a rare syndrome mostly diagnosed postnatally. Fetal ultrasound findings can lead us to the prenatal diagnosis of rare anomalies and if you scan carefully you can diagnose uncommon syndromes, as well.