Terminology

Question 1

Polycythemia

Answer 1

Abnormal inc in RBCs

Question 2

Tracheomalacia

Answer 2

Condition where the cartilage rings that keep the airway open cannot suport the opening of the trachea which causes the airway to collapse

Question 3

Palebral Fissure

Answer 3

The opening between the eye lids

Question 4

Slanted palpebral fissure can be a sign of

Answer 4

T21

Question 5

Epicanthal Fold

Answer 5

Skin fold of the upper eyelid covering the inner corner of the eye. Possibly a sing of T21.

Question 6

Simian Crease

Answer 6

Single palmar crease that presents in 40% of infants with T21

Question 7

Harlequinn Sign

Answer 7

Clear line of demarcation from head to abdomen with one side red and the other side pale

Question 8

Cutis Marmorata

Answer 8

Benign physiologic vascular response to cold resulting in mottling of the skin on the trunk and extremities.

Question 9

Pierre Robin Sequence

Answer 9

Congenital birth defect characterized by an underdeveloped jaw, backward displacement of the tongue and upper airway obstruction

Question 10

Pierre Robin Sequence: Etiology

Answer 10

Exact cause is unknown but the sequence of anomalies begins with an undeveloped jaw which causes displacement of the tongue and subsequent U-shaped cleft palate

Question 11

Pierre Robin Sequence: Common Complications

Answer 11

Breathing and feeding
Repeat ear infections

Question 12

Treacher Collins Syndrome

Answer 12

Genetic disorder characterized by deformities of the ears, eyes, cheekbones, and chin

Question 13

Treacher Collins Syndrome: Common Complications

Answer 13

Respiratory Compromise

Question 14

Does Treacher Collins Syndrome cause developmental delays?

Answer 14

Developmental delays might occur but there’s no indication the syndrome affects child’s intellectual ability

Question 15

Treacher Collins: Life Expectancy

Answer 15

Life expectancy is normal

Question 16

Pierre Robin Sequence: Life Expectancy

Answer 16

Life expectancy is normal assuming symptoms are treated appropriately

Question 17

Pierre Robin Sequence: Positioning of Baby

Answer 17

Prone is best to help avoid the tongue from falling back and occluding the airway

Question 18

DeLange’s Syndrome

Answer 18

Genetic condition that causes physical, intellectual and behavioral differences

Question 19

DeLange’s Syndrome: Physical Characteristics

Answer 19

Upturned nose
Thick eyebrows that meet in the middle
Long eye Lashes
Low-Set Ears
Upper limb differences (missing fingers or forearms)

Question 20

Does DeLange’s Syndrome cause developmental delays?

Answer 20

Developmental delays can range from mild learning disabilities to profound intellectual disabilities

Question 21

DeLange: Life Expectancy

Answer 21

Life expectancy is normal assuming complications from the conditions (like pneumonia or GI issues) are treated properly

Question 22

Neck webbing is associated with which syndromes?

Answer 22

Turner Syndrome
Noonan Syndrome
Downs Syndrome

Question 23

Aldosterone

Answer 23

A mineralocorticoid which regulates sodium and potassium levels

Question 24

Androgens

Answer 24

Male sex hormones like testosterone that is required for growth and development in both males and females

Question 25

Syndactyly

Answer 25

Fusion of two or more digits

Question 26

Doll's Eye Test

Answer 26

Eyes should move to the opposite side when the head is rotated side to side

Question 27

Cutis Marmorata Telangiectatica Congenita

Answer 27

Condition that affects the blood vessels of the skin and soft tissue. Presents as mottling that is darker than when caused by cold stress and does not go away when warm.