Jarcho‐Levin syndrome: Unusual survival in a classical case

Publisher Website
Google Scholar
Abstract
Spondylothoracic dysostosis, or Jarcho‐Levin syndrome, together with spondylocostal dysostosis, constitute a heterogeneous group of rare disorders characterized by short‐neck, short‐trunk dwarfism and multiple vertebral anomalies at all levels of the vertebral column. The latter include hemivertebrae, fused, hypoplastic, and “butterfly” vertebrae. In most cases of Jarcho‐Levin syndrome, the small size of the thorax causes respiratory death in infancy. This report of a Puerto Rican child with spondylothoracic dysostosis and unusually long survival to 11 years exemplifies the nosologic and prognostic difficulties associated with this syndrome.