A complex deformity of appendicular skeleton and shoulder with congenital heart disease in three generations of a Jordanian family.

A sibship is reported of three generations of a Jordanian family of normal intelligence with a complex malformation of upper extremity, shoulder and thorax, which is combined with variously expressed congenital heart disease. The deformity consists of a flat glenoid fossa, a hypoplastic scapula, aplasia of the humerus and/or radius, bony spurs of the elbow joint and in the shoulder region, hypoplasia of the carpal joints and hypodactyly with aplasia of the thumb. The claviculae are short, thick and abnormally curved and there are kyphoscoliosis and pectus excavatum. Four siblings show congenital heart disease. Pelvis and lower extremity are normal. The condition is inherited as a Mendelian autosomal dominant.