PMC3634259_01
Photograph (a) depicting foreshortened midsegment of the left upper limb along with flexion deformity at the elbow and wrist joints and rudimentary thumb. Right upper limb has hypoplastic thumb. Clinodactyly is seen in both limbs. Plain radiograph (b) of the left upper limb (left side) showing absent radius and hypoplastic ulna with both upper limbs showing absent first metacarpal and hypoplastic thumb phalanges
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F1
On musculoskeletal examination, left upper limb had foreshortened mid segment associated with flexion deformity at the elbow and wrist joints, rudimentary thumb and clinodactyly [Figure 1a]. Right upper limb had hypoplastic thumb, clinodactyly and flexion deformity of wrist [Figure 1a]. Plain radiograph of both upper limbs revealed absent radius, underdeveloped ulna of left upper limb and absent first metacarpal, hypoplastic thumb pahalanges in both upper limbs [Figure 1b].
Electrocardiogram (left side) showed normal sinus rhythm with right ventricular hypertrophy with right axis deviation. Chest roentogram (right side) showed levocardia, oligemia, cardiomegaly (cardiothoracic ratio of 60%) mainly of right ventricle, normal thoracic situs
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F2
Electrocardiogram [Figure 2] showed normal sinus rhythm with right ventricular hypertrophy with right axis deviation. Chest roentogram [Figure 2] showed levocardia, cardiomegaly mainly of right ventricle, pulmonary oligemia and normal thoracic situs.
Parasternal long axis view (a) demonstrating large subaortic ventricular septal defect with more than 50% over riding by aorta (thick white arrow) and dilated coronary sinus (black arrow). Subcostal view (c) demonstrating both great vessel committed to right ventricle with Doppler evidence of severe right ventricular outflow tract obstruction (thin white arrow) having peak gradient of 65 mm of mercury (b) (LV = Left ventricle;RV = Right ventricle;LA = Left atrium)
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F3
Two dimensional echocardiography showed double outlet right ventricle (DORV) with large subaortic ventricular septal defect (VSD) with more than 50% over riding by aorta along with severe valvular pulmonary stenosis with normal pulmonary venous drainage [Figure 3].