A family of Holt-Oram syndrome

A family of Holt-Oram syndrome is reported. Twenty of 41 living members in the last 3 generations were examined. The propositus expressed typically the cardinal features of this syndrome: atrial septal defect, patent ductus arteriosus, cardiac arrhythmias and conduction block of various types, and hypoplasia of the left thumb. Two individuals were clinically diagnosed to have atrial septal defect without any upper limb anomaly, and 3 showed upper limb anomaly without any sign of congenital heart disease. Other 5 members showed only minor abnormalities, such as funnel chest or mild right ventricular hypertrophy on ECG and VCG. Some of the skeletal abnormalities observed were hitherto undescribed ones. These include generalized hypoplasia of left hand and downward displacement of right sterno-clavicular joint.