Associations and Gene Deletion Syndromes

Question 1

What is VACTERL association?

Answer 1

Vertebral defects
A- imperforated anus
Cardiac anomalies
Tracheoesophageal fistula
Esophageal atresia
Renal dysplasia
Limb anomalies

Question 2

What is CHARGE association?

Answer 2

Coloboma (hole in one of the eye structures)
Heart defects
A- choanal atresia
Restriction of growth/ development
Genitourinary problems
Ear anomalies

Question 3

What is CATCH 22

Answer 3

Cardiac defects
Abnormal face
Thymic hypoplasia
Cleft palate
Hypocalcemia (d/t hypoparathyroidism)
22q11.2 gene deletion

Question 4

What is another name for CATCH 22?

Answer 4

DiGeorge syndrome
22q11.2 gene deletion syndrome

Question 5

Hypocalcemia considerations in CATCH 22

Answer 5

Factors that lower Ca++ include:
Citrated blood products
Albumin
Hyperventilation

Question 6

Transfusion considerations for CATCH 22

Answer 6

Leukocyte-depleted irradiated blood is preferred

Question 7

Risk associated with absent thymus in CATCH 22

Answer 7

Risk of infection = thymus transplant or mature T cell infusion may be tx