Jarcho-Levin syndrome: unusual survival in a classical case.
Am J Med Genet
; 49(3): 328-32, 1994 Feb 01.
Article
em En
| MEDLINE
| ID: mdl-8209895
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.
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Base de dados:
MEDLINE
Assunto principal:
Coluna Vertebral
/
Anormalidades Múltiplas
/
Nanismo
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Child
/
Humans
/
Male
Idioma:
En
Revista:
Am J Med Genet
Ano de publicação:
1994
Tipo de documento:
Article