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Peds II > Genetics > Flashcards

Genetics Flashcards

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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?

Study These Flashcards
A

X-linked recessive

25
What is the most common inherited intellectual disability?
Fragile X (FX)
26
What condition involves large ears, long/narrow face; intellectual impairment?
Fragile X (FX)
27
With what condition are you looking to obtain genetic testing in any males with intellectual disability?
Fragile X (FX)
28
What condition involves premutations?
Fragile X (FX)
29
What condition involves chromosome 22 deficit?
DiGeorge Syndrome (DGS)
30
Is DiGeorge Syndrome (DGS) often autosomal dominant or autosomal recessive?
Autosomal dominant | - CAN be random
31
What is the triad of symptoms associated with DiGeorge Syndrome (DGS)?
- Cardiac abnormalities - Hypoplastic thymus - Hypocalcemia
32
What condition involves the triad of cardiac abnormalities, hypoplastic thymus and hypocalcemia?
DiGeorge Syndrome (DGS)
33
What condition involves palatal defects; GU abnorm.; recurrent infections and inflammatory diseases?
DiGeorge Syndrome (DGS)
34
What are the two classifications of DiGeorge Syndrome (DGS), and how does this effect immune function?
Partial vs. Complete - Depends on Thymus and immune function - Complete = NO Thymus → IC
35
What condition is diagnosed by low CD3 and T cells + clinical?
DiGeorge Syndrome (DGS)
36
What condition involves CXR shows thymic shadow?
DiGeorge Syndrome (DGS)
37
What is the prognosis for DiGeorge Syndrome (DGS)?
Complete DGS = LOW life expectancy | - Early diagnosis is important
38
What condition appears POST-pubertal?
Klinefelter Syndrome
39
What condition involves low testosterone, high FSH/LH?
Klinefelter Syndrome
40
What condition involves short stature, webbed neck, shield chest (broad with wide spaced nipples)?
Turner Syndrome
41
How can you differentiate Turner Syndrome from Klinefelter Syndrome?
Turner Syndrome has NORMAL intellect | - Klinefelter Syndrome often has language delay, learning disabilities
42
What cardiac abnormality is associated with Turner Syndrome?
Possible coarctation of aorta (aortic dissection risk)
43
What condition involves horseshoe kidney?
Turner Syndrome
44
What condition involves streaked gonads = underdeveloped?
Turner Syndrome
45
What condition is a defect in prechordal mesoderm?
Trisomy 13 (Patau Syndrome)
46
What condition involves midline craniofacial defects (cleft lip/palate)?
Trisomy 13 (Patau Syndrome)
47
Which two conditions involve hypotonia?
- Trisomy 13 (Patau Syndrome) | - Trisomy 21 (Down Syndrome)
48
With what two trisomies do a majority of children die in utero or shortly after birth? Which has the better prognosis if born alive?
- Trisomy 13 (Patau Syndrome) | - Trisomy 18 (Edwards Syndrome) = better prognosis
49
What condition involves low birth weight, low set ears, microcephaly?
Trisomy 18 (Edwards Syndrome)
50
What condition involves hypertonia/spasticity?
Trisomy 18 (Edwards Syndrome)
51
What condition involves CHD (VSD, PDA)?
Trisomy 18 (Edwards Syndrome)
52
What is the most common chromosomal abnormality?
Trisomy 21 (Down Syndrome)
53
What condition involves increased risk with higher maternal age?
Trisomy 21 (Down Syndrome)
54
What condition involves epicanthic folds, flat nasal bridge, low set ears, open mouth, protruding tongue; vision and hearing abnormalities?
Trisomy 21 (Down Syndrome)
55
What condition involves CHD (AVSD, VSD)?
Trisomy 21 (Down Syndrome)
56
What condition involves joint laxity with atlantoaxial instability?
Trisomy 21 (Down Syndrome)
57
What condition involves transvers palmar crease (Simian)?
Trisomy 21 (Down Syndrome)
58
What is the difference between genetic SCREENING and genetic TESTING?
- 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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