High Yield

Question 1

Gene affected in osteogenesis imperfecta?

Answer 1

COL1A
either autos dominant or recessive

Question 2

Ellis van creveld - what gene?

Answer 2

EVC1 and EVC2
autos recessive

Question 3

Stickler’s syndrome - what is the gene called?

Answer 3

COL2A (think collagen is important in nose)
autosomal dominant

Question 4

Stickler’s syndrome symptoms
What is the gene defect?

Answer 4

Think a stickler for rules is stuck up - anteverted nose, issues with hearing, eyes, joint problems/arthritis

COL2A

Question 5

thanataphoric dysplasia and acondroplasia gene defect

Answer 5

FGFR3

thanataphoric: (severe, death from resp failure, narrow thorax, clover leaf craniosynostosis). all mutations are new and not inherited

Question 6

Jeune syndrome

Answer 6

defect in IFT80 gene
autos recessive

narrow ribs
resp deficiency,
pancreatic and hepatic fibrosis** (this is different), hirschsprung’s, hydrocephalus

Question 7

Facial features in DiGeorge

Answer 7

long face, hooded eyelids, protuberant low set ears with thick overfolded helices, tubular nose with enlarged nasal tip, micrognathia

Question 8

Behavioral difficulties in DiGeorge?

Answer 8

ADHD, speech delay, learning difficulties, nasal voice from cleft palate if submucosal

Question 9

Maternal isotretinoin results in what facial features? Cardiac?

Answer 9

Microtia
Hypertelorism
Triangular face
epicanthal folds
Macrocephaly
Small arms
Conotruncal - TGA, tetralogy, aortic arch, VSD/ASD

Question 10

Steady state equation

Answer 10

The equilibrium point at which the amount of drug administered equals the amount of drug that is excreted

Question 11

What things do you decrease in TPN with cholestasis?

Answer 11

Manganese
Copper (controversial)

Question 12

What things do you decrease in TPN in renal dysfunction and failure?

Answer 12

Selenium

Question 13

What condition do you try to avoid by irradiating prbcs?

Answer 13

GVHD

Question 14

RBC erythropoiesis progression and location and what weeks?

Answer 14

aorto-gonad-mesonephros region (where HSCs first emerge) -> 6w yolk sac to liver -> 22w to bone marrow

Question 15

Origin of anorectal formation

Answer 15

cloaca
anorectal canal
urorecto septum is critical to separate the anorectum

Question 16

In NRP, what would you do with intubated Hr>100 but cyanosis?

Answer 16

Mainly increase fio2
Also increase PIP and PEEP

Question 17

Threshold ROP definition

Answer 17

Zone I or II
+
Stage 3
+
Plus disease
+
5 continuguous or 8 cumulative clock hours

Question 18

Features of Trisomy 18

Answer 18

Clenched + low + small
-clenched fists, overlapping fingers
-rocker bottom feet
-IUGR
-micrognathia
-low set ears
-prominent occipital
-CHD; VSD
-renal issues
-omphalocele

Question 19

Brushfield spots/iris speckling and hypotonia

Answer 19

T21

Question 20

What diagnosis suspected in baby with severe PPHN unable to get off ecmo? What gene causes it?

Answer 20

ACD
Mutations/deletions in FOXF1 gene

Question 21

Most common cause of miscarriages

Answer 21

Monosomy

Question 22

Effects of carbon monoxide? Color of blood?

Answer 22

Bind hemoglobin with 200x more affinity than O2, forming carboxyhemoglobin.
Blood cherry red
shifts dissociation curve to left and becomes more hyperbolic - losing oxygen delivery
Management - 100% oxygen and hyperbaric oxygen
NOT same as methemoglobinemia

Question 23

Consequences of methemoglobinemia
Color of blood?
Treatment?

Answer 23

Oxidizes iron from Fe2+ to Ferric
MM:
Blood - Mud (chocolate brown)
Methylene blue

Question 24

What hormone responsible for fetal growth?

Answer 24

IGF1
(Placental lactogen is from placenta)

Question 25

Sickle cell: hgb electrophoresis/nbs results showing

Answer 25

Hb S and Hb F but no Hb A

Question 26

Describe features of schwachman diamond?

Answer 26

Neutropenia, eczema, diarrhea

Question 27

Describe features of schwachman diamond? How inherited?

Answer 27

Generalized bone marrow dysfunction. Neutropenia, eczema, diarrhea/malabsorption w steatorrhea leading to FTT, skeletal defects Increased risk of myelodysplastic syndrome Autosomal recessive

Question 28

Fanconi Syndrome

Answer 28

Fanconi syndrome: global dysfunction of the proximal renal tubule characterized by glucosuria, phosphaturia, generalized aminoaciduria, and type II renal tubular acidosis, often accompanied by hypokalemia, sodium wasting, and dehydration.[1] The syndrome results from impaired reabsorption of low-molecular-weight nutrients, electrolytes, and other small molecules that are normally reclaimed by the proximal tubule

Question 29

Inheritance of genetic hearing loss?

Answer 29

Autosomal recessive (Cataracts are dominant)

Question 30

What maternal pregnancy related conditions are assoc with accelerated lung maturation and surfactant production?

Answer 30

Question 31

Which have antenatal steroids shown to reduce? IVH NEC PDA Mortality RDS BPD

Answer 31

Decrease: IVH, RDS, Mortality No difference: NEC, PDA, BpD

Question 32

Which maternal med caused this: neural tube defect, syndactyly

Answer 32

Valproate

Question 33

Which maternal med causes distal digital hyperplasia, IUGR, intellectual defects?

Answer 33

Phenytoin/hydantoin syndrome

Question 34

Most common CHD in IDM?

Answer 34

Septal hypertrophy TGA**

Question 35

Phenotype of 5alpha reductase deficiency in males and females?

Answer 35

Males: + testes, + wolffian structures, -mullerian structures Small phallus, hypospadias, blind vaginal pouch, virilization at puberty (testicles at twelve) Females: asymptomatic

Question 36

Aromatase deficiency in females - presentation? What is not produced?

Answer 36

Presents testosterone conversion to estradiol Has Mullerian structures, no Wolffian duct structures Ambiguous genitalia or clitoromegaly May have multicystic ovaries, tall stature, virilization at puberty, delayed bone age

Question 37

Fetal symptoms of methimazole during pregnancy?

Answer 37

Cutis aplasia Atresias - choanal, TEF, etc

Question 38

Where are the wolffian ducts derived from?

Answer 38

Excretory mesonephros duct

Question 39

Where are the Müllerian ducts derived from?

Answer 39

Coelomic epithelium

Question 40

Pathogenesis of PVL:

Answer 40

Ischemia in watershed areas of the periventricular white matter. Resulting ischemia alters development of vulnerable oligodendrocyte progenitor cells

Question 41

Is Werdnig Hoffman an upper or lower motor neuron lesion?

Answer 41

Lower

Question 42

Waardenburg syndrome

Answer 42

Autos dominant Pigmentary issues of hair, skin, eyes. White forelock Congenital sensorineural hearing loss

Question 43

Incontinentia pigmenti features

Answer 43

Linear vesicles Seizures, mental deficiency, spastic paralysis Retinal vascular proliferation, retinal detachment, blindness

Question 44

What genetic testing is done to diagnose DiGeorge?

Answer 44

FISH