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Peds II > Genetics > Flashcards

Genetics Flashcards

1
Q

What is another name for Osteogenesis Imperfecta (OI)?

A

“Brittle Bone Disease”

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2
Q

Is Osteogenesis Imperfecta (OI) autosomal dominant or autosomal recessive?

A

Autosomal dominant

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3
Q

Which mutation for Osteogenesis Imperfecta (OI) is most common? Which is most lethal?

A
  • Type I Collagen = most common

- Type II Collagen = most lethal

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4
Q

Which condition involves blue sclera?

A

Osteogenesis Imperfecta (OI)

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5
Q

What condition involves excessive/atypical fractures?

A

Osteogenesis Imperfecta (OI)

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6
Q

What condition involves biochemical testing of collagen?

A

Osteogenesis Imperfecta (OI)

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7
Q

What condition involves Wormian bones at sutures?

A

Osteogenesis Imperfecta (OI)

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8
Q

What condition involves “codfish vertebrae” = biconcave compression fractures?

A

Osteogenesis Imperfecta (OI)

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9
Q

What lab finding is commonly seen with Osteogenesis Imperfecta (OI)?

A

Hypercalcemia

- Indicates severity (higher = more severe)

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10
Q

What treatment is recommended for Osteogenesis Imperfecta (OI), and what does this do?

A

Bisphosphonates (Pamidronate)

- Slows bone reabsorption to reduce fracture rates and increase bone density

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11
Q

What non-pharmacologic treatment can be considered for Osteogenesis Imperfecta (OI) (3)?

A
  • Immobilize acute fractures (short duration)
  • Low-impact exercise
  • Avoid alcohol, smoking, steroids
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12
Q

Is Marfan Syndrome autosomal dominant or autosomal recessive?

A

Autosomal dominant

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13
Q

What gene is mutated with Marfan Syndrome?

A

FBN1/Fibrillin mutation

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14
Q

What condition involves tall/thin stature, wide arm span, arachnodactyly?

A

Marfan Syndrome

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15
Q

What condition involves +hand signs (Steinberg and Walker-Murdoch); hypermobile joints with laxity; pectus excavatum?

A

Marfan Syndrome

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16
Q

What three conditions should be considered in association with Marfan Syndrome?

A
  • Aortic dilation/dissection (risk for rupture)
  • Spontaneous PTX
  • Ectopia lentis
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17
Q

What is the treatment for Marfan Syndrome?

A

Beta-Blockers

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18
Q

What condition involves paternal deletion/maternal disomy of Chromosome 15?

A

Prader-Willi Syndrome (PWS)

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19
Q

What condition involves food-seeking behavior?

A

Prader-Willi Syndrome (PWS)

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20
Q

What is the most common syndromic form of obesity?

A

Prader-Willi Syndrome (PWS)

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21
Q

How does Prader-Willi Syndrome (PWS) differ from infancy to childhood symptomatically?

A
  • Infant: profound hypotonia, FTT

- Childhood: hyperphagia, weight gain/obesity

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22
Q

What is the recommended treatment for Prader-Willi Syndrome (PWS)?

A

Limited options…

- Mostly behavioral modifications, replace hormones, parent education

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23
Q

Complications associated with obesity should be considered with what condition?

A

Prader-Willi Syndrome (PWS)

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24
Q

Is Fragile X (FX) X-linked dominant or X-linked recessive?

A

X-linked recessive

25
Q

What is the most common inherited intellectual disability?

A

Fragile X (FX)

26
Q

What condition involves large ears, long/narrow face; intellectual impairment?

A

Fragile X (FX)

27
Q

With what condition are you looking to obtain genetic testing in any males with intellectual disability?

A

Fragile X (FX)

28
Q

What condition involves premutations?

A

Fragile X (FX)

29
Q

What condition involves chromosome 22 deficit?

A

DiGeorge Syndrome (DGS)

30
Q

Is DiGeorge Syndrome (DGS) often autosomal dominant or autosomal recessive?

A

Autosomal dominant

- CAN be random

31
Q

What is the triad of symptoms associated with DiGeorge Syndrome (DGS)?

A
  • Cardiac abnormalities
  • Hypoplastic thymus
  • Hypocalcemia
32
Q

What condition involves the triad of cardiac abnormalities, hypoplastic thymus and hypocalcemia?

A

DiGeorge Syndrome (DGS)

33
Q

What condition involves palatal defects; GU abnorm.; recurrent infections and inflammatory diseases?

A

DiGeorge Syndrome (DGS)

34
Q

What are the two classifications of DiGeorge Syndrome (DGS), and how does this effect immune function?

A

Partial vs. Complete

  • Depends on Thymus and immune function
  • Complete = NO Thymus → IC
35
Q

What condition is diagnosed by low CD3 and T cells + clinical?

A

DiGeorge Syndrome (DGS)

36
Q

What condition involves CXR shows thymic shadow?

A

DiGeorge Syndrome (DGS)

37
Q

What is the prognosis for DiGeorge Syndrome (DGS)?

A

Complete DGS = LOW life expectancy

- Early diagnosis is important

38
Q

What condition appears POST-pubertal?

A

Klinefelter Syndrome

39
Q

What condition involves low testosterone, high FSH/LH?

A

Klinefelter Syndrome

40
Q

What condition involves short stature, webbed neck, shield chest (broad with wide spaced nipples)?

A

Turner Syndrome

41
Q

How can you differentiate Turner Syndrome from Klinefelter Syndrome?

A

Turner Syndrome has NORMAL intellect

- Klinefelter Syndrome often has language delay, learning disabilities

42
Q

What cardiac abnormality is associated with Turner Syndrome?

A

Possible coarctation of aorta (aortic dissection risk)

43
Q

What condition involves horseshoe kidney?

A

Turner Syndrome

44
Q

What condition involves streaked gonads = underdeveloped?

A

Turner Syndrome

45
Q

What condition is a defect in prechordal mesoderm?

A

Trisomy 13 (Patau Syndrome)

46
Q

What condition involves midline craniofacial defects (cleft lip/palate)?

A

Trisomy 13 (Patau Syndrome)

47
Q

Which two conditions involve hypotonia?

A
  • Trisomy 13 (Patau Syndrome)

- Trisomy 21 (Down Syndrome)

48
Q

With what two trisomies do a majority of children die in utero or shortly after birth? Which has the better prognosis if born alive?

A
  • Trisomy 13 (Patau Syndrome)

- Trisomy 18 (Edwards Syndrome) = better prognosis

49
Q

What condition involves low birth weight, low set ears, microcephaly?

A

Trisomy 18 (Edwards Syndrome)

50
Q

What condition involves hypertonia/spasticity?

A

Trisomy 18 (Edwards Syndrome)

51
Q

What condition involves CHD (VSD, PDA)?

A

Trisomy 18 (Edwards Syndrome)

52
Q

What is the most common chromosomal abnormality?

A

Trisomy 21 (Down Syndrome)

53
Q

What condition involves increased risk with higher maternal age?

A

Trisomy 21 (Down Syndrome)

54
Q

What condition involves epicanthic folds, flat nasal bridge, low set ears, open mouth, protruding tongue; vision and hearing abnormalities?

A

Trisomy 21 (Down Syndrome)

55
Q

What condition involves CHD (AVSD, VSD)?

A

Trisomy 21 (Down Syndrome)

56
Q

What condition involves joint laxity with atlantoaxial instability?

A

Trisomy 21 (Down Syndrome)

57
Q

What condition involves transvers palmar crease (Simian)?

A

Trisomy 21 (Down Syndrome)

58
Q

What is the difference between genetic SCREENING and genetic TESTING?

A
  • Genetic screening: assesses RISK for having a fetus with genetic disorder
  • Genetic diagnostic testing: DIAGNOSES fetus with the genetic disorder

Peds II (12 decks)

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