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Pediatrics Step 2 > Genetics > Flashcards

Genetics Flashcards

1
Q

Marfan syndrome: (AD)

  • eye
  • heart
  • skeletal
A
  • retinal detachment, lens dislocation
  • aortic root dilation (risk of dissection)
  • scoliosis, arachnodactily
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2
Q

Pt with Marfan syndrome, what would you prescribe?

A

B blockers
ARBs
(To slow down aortic root dilation)

  • also risk of spontaneous pneumothorax
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3
Q

Ehlers Danos:

Skin, joint and wound healing manifestations?

A

Hyperextensive skin
Hyperflexible joints
Abnormal wound healing, wide atrophic scars
Autosominal dominat, type 5 collagen mutation

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4
Q

4 year old child with multiple fractures, some have healed others have not
Normal height
Dx and additional findings

A

Dx osteogenesis imperfecta

Additional findings- brittle teeth (yellow sometimes), BLUE SCLERA

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5
Q

Achondroplasia vs osteogenesis imperfecta genetics

A

Both AD,
Achondroplasia= type V collagen, OI= types 1- 4 collagen
Achondroplasia has short stature, OI has normal stature

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6
Q

Noonan syndrome characteristic:

  • facies
  • heart defect
  • skeletal defect
A
  • facies: downslanting eyes, hooded eye lids, wide spaced eyes
  • pulmonary valve stenosis —> HOCM later
  • PECTUS DEFORMITY (anterior chest looks punched in)
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7
Q

Noonan syndrome vs Turner’s syndrome

A 
BOTH: wide spaced nipples, webbed neck
Edema of the feet!
Cardiac differences: 
- Turner’s syndrome: LEFT sided heart defects (coarctation, bicuspid aortic valve)
- Noonan: RIGHT sided heart defect (PVS)

Turners only girls

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8
Q

VACTERL syndrome vs Fanconi anemia

A

Both: thumb/ radial hypoplasia!!
VACTERL (vertebral, anal, cardiac, TE, renal, limb)
Fanconi (congenital aplastic anemia- onset of aplastic anemia at age 7), BIRTH DEFECTS: renal tubular acidosis, SHORT STATURE, skin hypopigmentation!
Tx of fanconi- transfusions, bone marrow transplant, immunosuppression

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9
Q

Baby with conotruncal heart defect, coloboma, genital hypoplasia, ear defective shape, choanal atresia?

A

CHARGE SYNDROME

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10
Q

Cornelia De Lange- (memory: Frieda Fairy)

A

Frieda Kahlo: hirsuitism, unibrow
Fairy: upturned nose, long eyelashes, microcephaly
Upper limb deformities

Sporadic autosomal dominant

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11
Q

Neurofibromatosis 1 characteristics

A

Cafe au lait spots
Cutaneous PLEXIFORM neurofibromas (look like myelin sheath etc)
Lisch nodules (iris hamartomas)
Incr risk for malignant gliomas and peripheral nerve sheath tumors

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12
Q

Potter sequence

A

Oligohydramnios due to any reason
Lung hypoplasia
Limb positions abnormal
Potter facies compressed

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13
Q

Mandibular hypoplasia likely other accompanying deformities:

A

Pierre Robin sequence:

  • micrognathia
  • posterior displacement of tongue
  • cleft palate
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14
Q

Child that is tall and thin and has developmental delay

A

Child has marfanoid habitus, so screen for HOMOCYSTINURIA,
Look for incr methionine / homocysteine in blood
Genetic testing
Remember MARFAN PEOPLE HAVE NORMAL DEVELOPMENT

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15
Q

Homocystinuria vs Marfan syndrome

A

Both: tall, thin kids with possible lens dislocation
Homocysteinuria:
- inferior lens dislocation vs posterior dislocation(Marfan)
- increased risk of thromboembolism (vs aortic dilation Marfan)
*homocysteinuria= COGNITIVE DELAY, MARFAN= NORMAL INTELLIGENT

Drugs:
Homocysteine special diet, or betaine therapy (to lower HS in blood)
Marfan: b blocker or ARB

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16
Q

1 day old BOY, present with Ammonia high >200, hyperventilation (causing respiratory alkalosis), Dx?

A

OTC deficiency, resulting in less ammonia converted to urea

Hyper ammonemia, hypotonia, HYPERVENTILATION

17
Q

OTC deficiency treatment

A

Low protein diet, with sodium benzoate to remove ammonia from body

18
Q

3 day old baby present with VOMITING, KETOTIC HYPOGLYCEMIA, hyperammonemia
Workup?

A

Check urine amino acids!!

MMA in urine or propionic acid (PA)

19
Q

Infant blond with blue eyes, hypotonia, musty odor of urine

A

Phenylketonuria

Tx restrict phenylalanine whole life

20
Q

Baby jaundice after breastfeeding, hypoglycemia, lethargy, cataracts after a while, PRESENT SIGNS OF SEPSIS, Dx?

A

Galactosemia baby with E COLI SEPSIS (metabolize galactose)

21
Q

3 month old baby, hypoglycemia, hyperlipidemia, hyperuricemia, HEPATOMEGALY:

A

Von Gierke disease (von GEEK disease)
Check glucose 6 phosphate levels
Careful- hepatic adenoma has malignant transformation potential

22
Q

Pompe disease sx

A

Pompe affects the PUMP - cardiomegaly

a glucosidase

23
Q

Child with ataxia, seizures and change of personality, mc Dx?

A

Wilson Disease! Look for kayser fleischer rings and low blood ceruloplasmin

24
Q

Obese child with hypotonia and short stature + hypogonadism Dx

A

Prader Willi! Remember, these kids become hyperphagic later in childhood

25
Q

Very friendly 6 year old girl, with intellectual disability, prominent forehead, wide mouth, Dx?

A 
Williams syndrome (deletion on chromosome 7 —> ELASTIN)
(Elfin facies!)
Elastin = connective tissue
Throat- hoarse voice
Heart- aortic stenosis (supravalvular)

Other signs: long philtrum, upturned nose

26
Q

Angelman syndrome vs williams syndrome

A

A: silenced mum gene, W: deletion short arm chr 7
A: bouts of LAUGHTER, W: very friendly
A: severe mental retardation, W: intellectual disability only
A: microcephaly, W: NORMAL HEAD

27
Q

17 yo girl with delayed puberty, normal genitalia and primary amenorrhoea- mcc

A

High FSH and LH:

  • Turners Syndrome
  • ovarian failure before puberty

Low FSH+ LH:
- hypothalamic pituitary failure before puberty

28
Q

17 yo girl with amenorrhoea, normal puberty and normal genitalia

A

Low LH FSH:

- means too much sex hormone inhibiting hpaxis= complete androgen insensitivity syndrome

29
Q

MC cause of testicular pain in child aged >12 yo:

A

Testicular torsion
Sx: acute pain in area, swollen testicles
Dx: decreased uptake in technecium 99m (or decr flow in doppler)
Tx: surgery immediately

30
Q

MC cause of testicular pain in boys <11 yo?

A

Testicular appendage torsion
Sx: gradual/ acute pain, BLUE DOT seen through scrotum skin
Dx: doppler normal/ incr flow
Tx: pain meds

Pediatrics Step 2 (8 decks)

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