Peds syndromes

Question 1

Which syndromes present with a big tongue?

Answer 1

“Big Tongue”

Beckwith

Trisomy 21

Question 2

Which syndromes present with small and underdeveloped mandible?

Answer 2

“Please Get That Chin”

Pierre Robin

Goldenhar

Treacher Collings

Cri Du Chat

Question 3

Which syndromes present with a cervical spine anomaly?

Answer 3

“Kids Try Gold”

Klippel-Feil
Trisomy 21
Goldenhar

Question 4

Airway with a patient with Trisomy 21

Answer 4

-Small mouth
-Large tongue
-Narrow and high palate
-Midface hypoplasia
-Atlantoaxial instability
-Subglottic stenosis
-OSA
-Chronic lung infection

Question 5

What is CHARGE?

Answer 5

Coloboma (hole in eye)
Heart Defects
Choanal atresia (nasal passage block)
Retardation of growth
Genitourinary problems
Ear anomalies

Question 6

What is CATCH 22?

Answer 6

Digeorge syndrome

Cardiac defects
Abnormal face
Thymic hypoplasia
Cleft palate
Hypocalcemia (from hypoparathyroid)
22 gene deletion

Question 7

What needs to be considered for Degeorge syndrome?

Answer 7

Hypocalcemia

Patient is at risk for infection if thymus is absent

Question 8

How is free calcium lowered?

Answer 8

Hyperventilation
Albumin
Citrate in blood