Unique cardiac and cerebral anomalies with chondrodysplasia punctata.
Am J Med Genet
; 75(1): 59-61, 1998 Jan 06.
Article
em En
| MEDLINE
| ID: mdl-9450859
ABSTRACT
Chondrodysplasia punctata (CDP) is associated with a variety of genetic and nongenetic conditions. We report a girl with CDP, complex congenital cardiac disease, central nervous system (CNS) anomalies, and clinical findings that resemble those of the sibs described by Toriello et al. [1993, Am J Med Genet 47797-799]. The cardiac defects and CNS abnormalities reported are unique in the context of CDP and may serve to expand the phenotypic spectrum of the unique form of CDP described by Toriello et al. [1993].
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Base de dados:
MEDLINE
Assunto principal:
Coartação Aórtica
/
Encéfalo
/
Condrodisplasia Punctata
Tipo de estudo:
Diagnostic_studies
Limite:
Female
/
Humans
/
Newborn
/
Pregnancy
Idioma:
En
Revista:
Am J Med Genet
Ano de publicação:
1998
Tipo de documento:
Article
País de afiliação:
Estados Unidos