set 1

Question 1

Stages of lung development

Answer 1

“Everybody Post Call Seems Angry”
Embryonic
Pseudoglandular
Canalicular
Saccular
Angry

Question 2

GA wks of lung development

Answer 2

E: 3-6
P: 6-16
C: 16-26
S: 26-36
A: 36+

Question 3

Stage: TEF, laryngeal cleft, tracheal stenosis, bronchogenic cyst

Answer 3

embryonic

Question 4

Stage: CDH, CPAM, cong lobar emphysema, pulm lymphangiectasia

Answer 4

pseudoglandular

Question 5

Dolicocephaly

Answer 5

Premature closure of SAGITTAL suture. Normal brain growth

Question 6

Plagiocephaly

Answer 6

Premature closure of unilateral coronal suture. Apert, Crouzon syndrome

Question 7

Brachycephaly

Answer 7

Premature closure of BILATERAL CORONAL suture. Carpenter syndrome

Question 8

Trigonocephaly

Answer 8

Premature closure of METOPIC suture (above nose). Triangle forehead.

Question 9

CP w/ kernicterus

Answer 9

Athetoid / extrapyramidal CP

Question 10

Athetoid CP

Answer 10

Mixed tone, fine and motor
Impaired hearing

Question 11

CP w/ prematurity

Answer 11

Spastic diplegia

Question 12

CP w/ HIE

Answer 12

spastic quadriplegia

Question 13

Arnold chiari Malformation

Answer 13

Caudal displacement of cerebellum
Normal ventricle

Question 14

Dandy walker syndrome

Answer 14

complete/partial absence cerebeller vermis
Enlarged 4th ventricle
Enlarged posterior fossa

Question 15

Defects primary neurolation

Answer 15

neural tube defects
anencephaly
encephalocele
arnold chiari

Question 16

Prosencephalic defects

Answer 16

holoprosencephaly
septo optic dysplasia
agenesis corpus collosum / septum pellucidum

Question 17

Neural migration defects

Answer 17

schizencephaly, lissencephaly, pachygyria, microcephaly, heterotropia

Question 18

neural organization defect

Answer 18

fragile x, autism, T21, angelman

Question 19

causes of cataracts

Answer 19

Galactosemia
ID: HSV, rubella, varicella, toxo
Genetic: T21, smith lemli, stickler, WAGR

Question 20

causes of glaucoma

Answer 20

Sturge weber
stickler
neurofibromatosis
homocystinuria
rubella
T21

Question 21

Dx w/ plagiocephaly

Answer 21

crouzon, apert

Question 22

EEG: central positive sharp waves

Answer 22

PVL

Question 23

EEG: hypsarrhythmia

Answer 23

infantile myoclonic spasms

Question 24

prader wili gene deletion

Answer 24

Paternal 15q11-q13 (maternal uniparental disomy)

Question 25

Williams gene deletion

Answer 25

7q11-23

Question 26

WAGR gene deletion

Answer 26

11p13

Question 27

Gene deletion: colobomas, thumb hypoplasia

Answer 27

Deletion 13q

Question 28

Beckwith Wiedemann inheritance

Answer 28

Loss of methylation on the maternal chromosome 11 (50%), Paternal uniparental disomy (20%), Gain of methylation on maternal chromosome 11 (5%).

Question 29

Port wine stain dx

Answer 29

"Cobb Web" Cobb sx Beckwith Weidemann Klippel trenauny weber Sturge webber

Question 30

45XO

Answer 30

Turner syndrome

Question 31

47XXY

Answer 31

Klinefelter

Question 32

Cong heart dx: Rubella

Answer 32

PDA

Question 33

Chediak Higashi

Answer 33

Oculocutaneous albinism. Recurrent infection. Giant intracellular granules

Question 34

McCune Albright

Answer 34

Irregular unilateral cafe au lait. Precocious puberty. Polyostotic fibrous dysplasia

Question 35

Mutation in beta 2 integrin gene

Answer 35

Neutrophil dysfunction (adhesion, migration) Leukocyte adhesion deficiency

Question 36

Antibiotics for Pseudomonas

Answer 36

Gentamicin Zosyn Cefepime Meropenem

Question 37

Encapsulated bacteria (asplenia)

Answer 37

Some Natural Killers Have Serious Capsule Protection: Strep pneumo Neiserria meningitides Klebsiella H flu Salmonella Cryptococc Pseudomonas

Question 38

OTC deficiency

Question 39

Pompe disease enzyme

Question 40

Glycogen storage dx 1 (Von Gierke) enzyme