1.
Arq Bras Cardiol
; 73(5): 429-34, 1999 Nov.
Article
in English
| MEDLINE
| ID: mdl-10887363
ABSTRACT
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.
Subject(s)
Abnormalities, Multiple/genetics , Hand Deformities, Congenital/genetics , Heart Defects, Congenital/genetics , Thumb/abnormalities , Abnormalities, Multiple/diagnosis , Adult , Eosinophilia/diagnosis , Hand Deformities, Congenital/diagnosis , Heart Defects, Congenital/diagnosis , Humans , Male , Pedigree , Syndrome
2.
Exp Neurol
; 57(2): 409-18, 1977 Nov.
Article
in English
| MEDLINE
| ID: mdl-908381