Jarcho-Levin syndrome: unusual survival in a classical case.
Am J Med Genet
; 49(3): 328-32, 1994 Feb 01.
Article
in 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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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Spine
/
Abnormalities, Multiple
/
Dwarfism
Type of study:
Diagnostic_studies
/
Prognostic_studies
Limits:
Child
/
Humans
/
Male
Language:
En
Journal:
Am J Med Genet
Year:
1994
Document type:
Article