PMC4879802_01
Picture showing the baby of Holt-Oram syndrome
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F1
Physical examination revealed an active baby weighing 2790 g and length of 49 cm, heart rate of 146/min, blood pressure of 70/30 mm of Hg, respiratory rate of 40/min, and systemic oxygen saturation of right upper limb being 83% in room air and that of right lower limb being 74% in room air [Figure 1].
Left upper limb showing radial ray deformity with absent thumb
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F2
On musculoskeletal examination, left upper limb shortening was noticed with absent radius bone, radial flexion deformity of the wrist and also absent thumb [Figure 2].
Right hand showing triphalangeal thumb
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F3
Triphalangeal thumb was seen in the right upper limb [Figure 3].
Plain radiograph showing the bony deformities of the upper limb with cardiomegaly
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F4
On further investigation, chest X-ray showed normal thoracic situs with cardiomegaly, plain radiograph of both upper limbs revealed absent radius on left side with absent carpal bones and absent first metacarpal bone and phalanges (thumb), right side showing absent carpal bones and triphalangeal thumb [Figure 4].
Echocardiography showing aortic atresia
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F5
The baby developed cyanosis couple of hours after delivery, following which an ECG was done which was normal and a 2D echocardiography was done which revealed severe aortic atresia with hypoplastic arch, large perimembranous VSD and ASD as well [Figure 5].