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Dysmorphism
Author:
Pediatric Oncall
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?
2
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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Disease A-Z
Health Topics
Developmental Pediatrics
General Pediatrics
Genetics
Immunodeficiencies
Infectious Diseases
Laboratory Medicine
Neonatology
Nutrition
Pediatric Cardiology
Pediatric Dermatology
View all topics
Featured Articles
Anal itching
Circumcision
Penile hygiene
Diabetic ketoacidosis
Anaphylaxis
Urticaria (hives) and angioedema
Kids Corner
Drugs & Calculators
Medical Calculators
Drug Calculators
Genetic Calculators
Growth Calculators
View all Calculators
Drug Index
ACE inhibitor
Alkylating agents
Allergies
View all Drugs
Poisoning Center
Aluminum phosphide
Anti-histaminics
Antidepressants
View all Drugs
Medical Eqipments
Monitors
Pumps
Incubators
View all Eqipments
Diagnostic Aid
Consult & Posts
Ask a Doctor
Diagnostic Dilemma
Question of the Week
Pediatric Blogs
Spot Diagnosis
Grand Rounds
Pedi Poll
Pediatric Oncall Journal
Current Issue
All Issues
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About the Journal
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Pediatric Oncall
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Pediatric Oncall Journal
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