Disk Two

Question 1

Down Syndrome is also known as:

Answer 1

Trisomy 21

A presence of a third #21 chromosome

Question 2

Name 5 physical features typically found in a child with Down Syndrome

Answer 2

Flattened nose, Protruding tongue, Inner epicanthal folds, short fingers with a bilateral single palmar crease, delayed growth and development.

Question 3

Simple way to remember phenotype vs genotype:

Answer 3

Phenotype is a physical finding, genotype usually takes a lab or other test to confirm.

Question 4

What is the most common congenital heart defect?

Answer 4

VSD (Ventricular septal defect)

Question 5

Name 5 physical features of Mafan’s syndrome.

Answer 5

Tall, Arm span is greater than height, High palate, Pectus escavatum, Joint hyperextension, Tall face

Question 6

A patient with Marfan’s syndrome is at risk for what complications?

Answer 6

Connective tissue disorders, Aortic Regurg, Mitral Valve prolapse, Aortic root aneurysm.

Question 7

What should you consider for a patient with Marfan’s syndrome wants a sports clearance?

Answer 7

Refer to cardiology for any contact sports clearance.

Question 8

What is the term Plethora?

Answer 8

a term applied to the beefy red coloration of a newborn. The “boiled lobster” hue of the infant’s skin is caused by an unusually high proportion of erythrocytes per volume of blood.

Question 9

Fever, cough, conjunctivitis and Koplik spots, followed by a rash along the hairline and forehead that appears on day 3 or 4?

Answer 9

Measles

Rubeola

Question 10

Low grade fever, post-auricular adenopathy, HA, Myalgias with a rash that appears on the face and rapidly spreads downward?

Answer 10

Rubella

German Measles

Question 11

Fever, HA, Myalgia with a sudden rash that appears as “Slapped Cheek” with circumoral pallor.

Answer 11

5th Disease

erythema infectiosum

Question 12

A red reflex test helps to identify what two conditions

Answer 12

Retinoblastoma

Congenital cataracts

Question 13

What is a Coloboma?

Answer 13

A coloboma describes conditions where normal tissue in or around the eye is missing from birth. (Including the optic nerve, iris or lid)

Question 14

Caput saccadeum vs Cephalhematoma

Answer 14

Caput crosses the midline (i.e suture lines) it is simple fluid under the skin and will resolve in 2-3 days. Cephalohematoma is blood under the cranial periosteum and requires closer exam.

Question 15

An infant termed as “Plethora” is at risk for what conditions?

Answer 15

CVA (d/t polycythemia)

Question 16

More than 5 Cafe au lait spots is concerning for:

Answer 16

Neurofibromatosis.

Question 17

Define “LGA” and “SGA”

Answer 17

“LGA” Large for Gestational Age (>90th percentile)

“SGA” Small for Gestational Age (<10th percentile)

Question 18

APGAR stands for

Answer 18

Appearance
Pulse
Grimmace
Activity (tone)
Respirations

Question 19

Average weight and length of newborn

Answer 19

7 lbs (3.1 kgs)
20-21 inches (51 cm)

Question 20

A newborn is considered premature if he/she is borm prior to what gestational age?

Answer 20

37 weeks

Question 21

What is Hydrops fetalis?

Answer 21

A fatal condition where there is an abnormal accumulation of fluid in two or more fetal compartments. (i.e. ascites, pleural effusion, pericardial effusion, skin edema)

Question 22

In a newborn, what temperature is considered feverish?

Answer 22

Anything 100.4 (38 Celsius) or higher

Question 23

What newborn primitive reflexes should disappear between 3-4 months old?

Answer 23

Rooting, Sucking, Moro, Plantar and Tonic neck

Question 24

Describe the tonic neck reflex in a newborn

Answer 24

This reflex occurs when the head of a child who is relaxed and lying face up is moved to the side. The arm on the side where the head is facing reaches away from the body with the hand partly open. The arm on the side away from the face is flexed and the fist is clenched tightly. Turning the baby’s face in the other direction reverses the position. The tonic neck position is often described as the fencer’s position because it looks like a fencer’s stance.

Question 25

Microcephaly is defined as:

Answer 25

Head circumference smaller than two standard deviations.

Question 26

Anterior fontanel is the largest and closes by what age?

Answer 26

18 months

Question 27

Posterior fontanel closes by what age?

Answer 27

2-3 months

Question 28

What conditions would cause a wide fontanel?

Answer 28

Prematurity, IUGR, hydrocephalus, Down’s, Hypothyroidism

Question 29

If an infant’s sclera is a shade of deep blue, what condition should be ruled out?

Answer 29

Osteogenesis Imperfecta.

Question 30

Brushfield spots of the iris are associated with what syndrome?

Answer 30

Down’s syndrome

Question 31

Describe PKU:

Answer 31

Phenylketonuria is a rare autosomal recessive disorder that causes an amino acid called phenylalanine to build up in the body. This enzyme will build up in excessive amounts when protein is ingested. Therefore babies who test positive will likely have a lifelong diet low in protein.

Question 32

When do PKU symptoms begin to manifest?

Answer 32

Usually within a few months, and usually when bottle feeding begins.

Question 33

Neuro symptoms of PKU can vary in severity and include:

Answer 33

Neurocongnitive disability, behavioral/social/emotional issues including ADHD. Seizures

Question 34

Physical manifestations of PKU may include:

Answer 34

Poor bone strength, A musty odor on breath, fair skin, blue eyes, microcephaly.

Question 35

Describe Milia

Answer 35

Pinpoint white papules on face, prominent on cheek, nose, forehead and chin. Usually disappears within first 3-4 weeks. Common. Not infectious.

Question 36

Describe Miliaria:

Answer 36

1-2 mm vesicles without secondary lesion. Distribution is anywhere there is are sweat glands. Occurs d/t obstructed sweat glands. Often called “prickly heat,” it is associated with high humidity or ambient temps. Common, non-infectious.

Question 37

Describe Erythema Toxicum

Answer 37

White/yellow papules/pustules overlaying secondary transitory errythemia described as blothcy. Most common newborn rash. Usually appears 2-5 days after birth and resolves by 14th day. Common, Non-infectious.

Question 38

Describe Cafe au lait spots

Answer 38

Café au lait spots are irregularly shaped, evenly hyperpigmented, brown macules which occur mostly on the trunk, buttocks and legs. Consider NF if greater than 5 are present.

Question 39

Describe Junctional Nevi:

Answer 39

AKA: mole. Flat or slightly raised brown to tan macules with uniform pigmentation that may be slightly irregular. The surface is smooth and flat to slightly elevated, and the border is round or oval and symmetric. Usually benign unless a large number are present.