[Complete endocardial cushion defect and bone malformations of the hands. Holt-Oram syndrome].
A 44 year old woman with upper limb skeletal malformations and endocardial cushion defect is described. This congenital heart disease was rarely reported in association with Holt-Oram syndrome.
Del Corso
L
L
Istituto di Clinica Medica II, Università di Pisa.
Vannini
A
A
De Marco
S
S
Gnesi
A
A
Pentimone
F
F
D000015:Abnormalities, Multiple / Q000175:diagnosis; D000328:Adult; D001842:Bone and Bones / Q000002:abnormalities*; D004694:Endocardial Cushion Defects / Q000175:diagnosis; D005260:Female; D006228:Hand Deformities, Congenital / Q000175:diagnosis; D006801:Humans; D013577:Syndrome
Difetto completo dei cuscinetti endocardici e malformazioni scheletriche delle mani. Sindrome di Holt-Oram.