Jarcho-Levin syndrome: two consecutive pregnancies in a Puerto Rican couple.

Abstract

This report describes two consecutive pregnancies in a Puerto Rican woman that were complicated by the autosomal recessive form of Jarcho-Levin syndrome (spondylothoracic dysplasia). This syndrome, with multiple vertebral and rib malformations, leads to respiratory insufficiency and early neonatal death. The prenatal sonographic appearance is characterized by the presence of fanned-out ribs from fused thoracic vertebral bodies. The features that distinguish spondylothoracic dysplasia and another subtype of Jarcho-Levin syndrome, spondylocostal dysplasia, are discussed. Prenatal diagnosis allows for parental counselling and the possibility of termination of pregnancy if the lethal type of spondylothoracic dysplasia is diagnosed prior to fetal viability.