Diagnostic Dilemma

Dysmorphism


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Question
A 20-month-old boy born of non-consanguineous marriage presented with recurrent pneumonia, increased sweating on the forehead, and delayed milestones. Currently, the child is only able to stand with support, do cooing, and has not achieved pincer grasp as yet. His birth history was normal. On examination, he had dysmorphic facies in form of low set ears, small 2nd toe, short neck, undescended testis. Cardiovascular system examination showed a small ventricular septal defect. Other systems were normal. Ultrasound of kidneys revealed absent left kidney and micturating cystourethrogram showed right-sided grade III VUR. X-Ray spine showed fusion of 1st and 2nd cervical vertebrae.

What is the diagnosis?
Answer Discussion :
M
Manan Salodkar
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what is the correct answer?
M
Mobarak Mohammed
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trisomy 21
1 Day ago

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