Heart-hand syndrome.
Heart-hand syndromes show substantial clinical and genetic heterogeneity. The unusual case of a patient with a heart-hand syndrome consisting of preaxial polydactylia, postaxial syndactylia, parachute mitral valve, mild subaortic stenosis, and double outlet right ventricle is presented and discussed. The importance of distinguishing Holt-Oram syndrome from its phenocopies and other heart-hand syndromes is underlined.
Saura
Daniel
D
Campos
José V
JV
Villegas
Manuel
M
Picó
Francisco
F
de la Morena
Gonzalo
G
Valdés-Chávarri
Mariano
M
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000601:surgery; D000293:Adolescent; D005260:Female; D006228:Hand Deformities, Congenital / Q000150:complications / Q000175:diagnosis* / Q000601:surgery; D006330:Heart Defects, Congenital / Q000150:complications / Q000175:diagnosis* / Q000601:surgery; D006801:Humans; D013577:Syndrome