title: Jarcho-Levin syndrome: unusual survival in a classical case.
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.
authors.affiliation: Department of Pediatrics, Steele Memorial Children's Research Center, University of Arizona College of Medicine, Tucson.
authors.forename: C P
authors.initials: CP
authors.lastname: McCall
authors.forename: L
authors.initials: L
authors.lastname: Hudgins
authors.forename: M
authors.initials: M
authors.lastname: Cloutier
authors.forename: R M
authors.initials: RM
authors.lastname: Greenstein
authors.forename: S B
authors.initials: SB
authors.lastname: Cassidy
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology; D002648:Child; D004392:Dwarfism / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology; D005808:Genes, Recessive; D006801:Humans; D008168:Lung / Q000503:physiopathology; D008297:Male; D011379:Prognosis; D011859:Radiography; D012129:Respiratory Function Tests; D013131:Spine / Q000002:abnormalities*; D013577:Syndrome