Polytopic anomalies with agenesis of the lower vertebral column.
Am J Med Genet
; 87(2): 99-114, 1999 Nov 19.
Article
em En
| MEDLINE
| ID: mdl-10533024
ABSTRACT
We describe clinical, pathological and radiological findings in 15 cases of sporadic and familial lower spine agenesis with additional anomalies of the axial skeleton and internal organs and speculate about the cause and pathogenesis of this malformation complex. We show that all of these findings are defects of blastogenesis, originate in the primary developmental field and/or the progenitor fields, thus representing polytopic field defects. This concept appears applicable in our cases and makes such terms such as "caudal regression syndrome" or "axial mesodermal dysplasia spectrum" redundant.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Anormalidades Múltiplas
/
Vértebras Lombares
Tipo de estudo:
Diagnostic_studies
Limite:
Adult
/
Female
/
Humans
/
Infant
/
Male
/
Newborn
Idioma:
En
Revista:
Am J Med Genet
Ano de publicação:
1999
Tipo de documento:
Article