PMC4845419_01
Clinical photograph of identical twins
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F1
Three months old identical twins (Fig. 1) born to a consanguinous couple (Fig 2: Pedigree) were brought with complaints of excessive cry, deformity of all four limbs, recurrent episodes of upper respiratory tract infections and diarrhoea since birth.
Pedigree chart
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F2
Three months old identical twins (Fig. 1) born to a consanguinous couple (Fig 2: Pedigree) were brought with complaints of excessive cry, deformity of all four limbs, recurrent episodes of upper respiratory tract infections and diarrhoea since birth.
A & B: Clinical photograph showing deviation of neck to right, Umbilical hernia, flexion deformity of both hips and knees and extension attitude of both the elbows.. C: Photograph of face depicting perinasal nodular lesions with hypertrophied gums.. D: Photograph of ankle with foot depicting hyper pigmented patches, swollen ankle and foot.. E: Photograph showing swollen hand with clawing of fingers and hyper pigmented patches in the creases.. F: Photograph of perineum depicting perianal fleshy excrescence/nodule
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F3
Nodular lesions around the nostrils, hypertrophied gums and fleshy nodular excrescence around the anus were noted (Fig 3: A-F).
Anteroposterior and lateral radiographs of both lower limbs show decreased bone density. Anteroposterior radiograph of both hands with wrist and forearms appear normal for age. No other bony abnormality is noticed
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F4
Radiography of the extremities revealed decreased bone density (Fig. 4).
A. Sequence chromatogram of proband showing homozygous insertion mutation c.277_278insATTATTT in exon 3. B. Sequence chromatogram of control exon 3
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F5
ANTXR2 gene revealed that the babies were homozygous for insertion mutation c.277_278insATTATTT (or p.L93Yfs*14) in exon 3 confirming the diagnosis of ISH (Fig. 5). All the invasive procedures described in the literature for diagnosis and management of ISH were thus avoided.