A newborn baby has decreased tone, oblique palpebral fissures, big tongue
What is Down Syndrome?
5 y/o with 3 days of runny nose, cough and congestion, followed by a blanching rash on both cheeks.
Erythema Infectiosum (Fifth Disease)
Newborn with cleft lip and palate, ASD, thyroid agenesis, and hypocalcemia.
DiGeorge Syndrome
Patient normal appearing and becomes cyanotic with crying. Knees to chest and resolution of crying helps resolve symptoms.
Tetrology of Fallot
4 y/o who stand up only by using his hands to push him up, large calves.
Duchennes Muscular Dystrophy
5 y/o with recent viral illness presents to ED with JVD, tachycardia, hypotension, and muffled heart sounds
Cardiac Tamponade
6mo old MALE infant with oligohydramnios prenatally now presenting with repeat UTI's and hydronephrosis onn RUS.
Posterior Urethral Valves
A 1 y/o with runny nose, fever of >103F for 4 days followed by resolution of fever and immediate appearance of blanching red maculopapular rash
Roseola Infantum (HHV 6)
16 y/o 6ft 5', pectus cavus, positive thumb sign with closed fists, dad died of unknown sudden cause at age of 35.
Marfans
Newborn dependent on PDA for life. Ultimately requires Norwood, Glenn and Fontan surgical series.
HLHS
24hr old neonate with bilious vomiting and this on KUB
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Duodenal Atresia (Down Syndrome)