JARCHO-LEVIN SYNDROME - UNUSUAL SURVIVAL IN A CLASSICAL CASE

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 II years exemplifies the nosologic and prognostic difficulties associated with this syndrome. (C) 1994 Wiley-Liss, Inc.