A child with Jarcho-levin syndrome

In 1938, Jarcho and Levin1 first described a syndrome of congenital abnormalities affecting the spine and the thorax. The syndrome described a spectrum of radiological and skeletal anomalies including abnormal vertebral segmentation or formation defects, rib deformities and short trunk dwarfism. In 1978, Solomon et al2 subdivided patients with the above features into 2 distinct phenotypes: spondylothoracic and spondylocostal dysostosis. The patients in the former phenotype had bilateral fusion of the ribs at the costal vertebral joints, segmentation and formation vertebral defects throughout the spine without intrinsic rib anomalies. The patients in the other phenotype were characterized by intrinsic rib anomalies such as broadening, bifurcation, and fusion but no symmetric fusion of the ribs. In 1996, Mortier et al3 analysed 141 cases of short trunk dwarfism and further classified the syndrome into three distinct clinical presentations: Jarcho-levin as the lethal autosomal recessive form with a symmetric crab-like chest; spondylothoracic dysostosis for the autosomal recessive usually less severe phenotype; and spondylocostal dysostosis for the autosomal dominant or recessive condition with intrinsic rib anomalies, usually without severe thoracic impairment and better prognosis.