1.
Arq Bras Cardiol
; 73(5): 429-34, 1999 Nov.
Artículo
en Inglés
| MEDLINE
| ID: mdl-10887363
RESUMEN
Holt-Oram syndrome was first described in 1960 as an association of familial heart disease and musculoskeletal abnormalities. The most important findings include atrial septal defects, atrioventricular conduction abnormalities, vascular hypoplasia, and upper limb musculoskeletal deformities. We report two patients with this syndrome in the same family and discuss the variability of the musculoskeletal abnormalities and their association with the cardiac morphologic defects. Both patients in this study had associated eosinophilia, which has not been reported in the literature.
Asunto(s)
Anomalías Múltiples/genética , Deformidades Congénitas de la Mano/genética , Cardiopatías Congénitas/genética , Pulgar/anomalías , Anomalías Múltiples/diagnóstico , Adulto , Eosinofilia/diagnóstico , Deformidades Congénitas de la Mano/diagnóstico , Cardiopatías Congénitas/diagnóstico , Humanos , Masculino , Linaje , Síndrome
2.
Exp Neurol
; 57(2): 409-18, 1977 Nov.
Artículo
en Inglés
| MEDLINE
| ID: mdl-908381