Patent ductus arteriosus and pulmonary valve stenosis in a patient with 18p deletion syndrome.
Yonsei Med J
; 49(3): 500-2, 2008 Jun 30.
Article
en En
| MEDLINE
| ID: mdl-18581602
We report on a patient with a partial deletion on the short arm of chromosome 18 (del 18p), who presented with dysmorphic features and delayed developmental milestones as well as with a patent ductus arteriosus (PDA) and pulmonary valve stenosis (PS). Several forms of congenital heart disease (CHD) are found in about 10% of patients with del (18p), but coexisting PDA and PS have not been reported. Del (18p) must be considered in patients with characteristic phenotypic abnormalities and congenital heart disease, including a combination of PDA and PS.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Estenosis de la Válvula Pulmonar
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Cromosomas Humanos Par 18
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Deleción Cromosómica
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Conducto Arterioso Permeable
Límite:
Child, preschool
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Humans
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Male
Idioma:
En
Revista:
Yonsei Med J
Año:
2008
Tipo del documento:
Article
País de afiliación:
China
Pais de publicación:
Corea del Sur