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PEDS II final > Pediatric genetics > Flashcards

Pediatric genetics Flashcards

1
Q

Osteogenesis Imperfecta (“brittle bone disease”) is autosomal <u> </u> and involves what genes

A
  • autosomal dominant
  • genes alpha-1 and alpha -2 chains of type I collagen (COLA1 or COLA2)
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2
Q

list the types of Osteogenesis Imperfecta

A
  • Type I: Mild
  • Type II: most severe (prenatal lethal)
  • Type III-IX: moderate to severe
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3
Q

Blue sclerae is indicative of

A

Osteogenesis Imperfecta

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4
Q

clinical presentation

  • short stature
  • limb deformity
  • scoliosis/kyphosis
  • basilar skull deformity
  • blue sclerae
  • hearing loss
  • opalescent teeth
A

Osteogenesis Imperfecta

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5
Q

What imaging findings are consistent with Osteogenesis Imperfecta

A
  • Wormian bones (suture bones)
  • codfish vertebrae (compression fx)
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6
Q

what labs should be done to evalulate for Osteogenesis Imperfecta

A
  • biochemical testing: evaluate structure and quality of type I collagen
  • labs: vit D, phosphorous, alk phosp may be elevated
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7
Q

treatment of Osteogenesis Imperfecta

A
  • Bisphosphonates-Pamidronate
    • slows down bone resorption
    • reduces fx rates and increases bone density
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8
Q

adverse effects of Bisphosphonates-Pamidronate

A
  • hypocalcemia
  • osteonecrosis of jaw
  • nephrotoxicity
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9
Q

Marfan syndrome is autosomal . What gene is affected

A
  • autosomal dominant
  • FBN1 (fibrillin)
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10
Q

What cardiac abnormalities are associated with Marfan’s syndrome

A
  • aortic dissection
  • mitral valve prolapse
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11
Q

What pulmonary abnormalities are associated with Marfan’s syndrome

A

predisposed to spontaneous pneumothorax

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12
Q

What ophthalmologic abnormalities are associated with Marfan’s syndrome

A
  • myopia
  • lens subluxation/dislocation
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13
Q

clinical presentation

  • tall, thin
  • increased arm span/height ratio
  • scoliosis
  • arachnodactyly
  • pectus deformity
  • hindfoot valgus
  • hypermobile joints with laxity
A

Marfan’s syndrome

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14
Q

The steinberg sign

A

(A): positive if thumb tip extends from palm of hand

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15
Q

The walker-Murdoch sign

A

(B) positive if thumb and fifth finger overlap

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16
Q

How is Marfan’s syndrome diagnosed

A
  • CVS or amniocentesis
  • DNA testing
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17
Q

Prader-Willi Syndrome is caused by

A
  • spontaneous
  • long arm of chromosome 15
    • absence of paternal gene expression
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18
Q

Prader-Willi Syndrome leads to dysfunction of

A

hypothalamus or pituitary

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19
Q

what is genetic imprinting

A

expression of gene depends on gender of parent donating this gene

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20
Q

loss of maternal copy of chromosome 15 results in

A

angelman syndrome

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21
Q

Prader-Willi Syndrome can be due to either

A
  1. paternal deletion: 75% of cases
  2. maternal disomy
    1. two copies of chromosome 15 inherited from mother
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22
Q

clinical presentation

  • narrow forehead
  • triangular mouth
  • short
  • depigmentation: skin and eyes
  • hypogonadism
  • intellectual delay
  • food seeking behavior
A

Prader-Willi Syndrome

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23
Q

This is characteristic of Prader-Willi Syndrome and is seen in infants and then changes in early childhood

A
  • infants: profound hypotonia
    • ​feeding difficulties
  • early childhood: Hyperphagia and weight gain
    • ​binge eating
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24
Q

How is Prader-Willi Syndrome diagnosed

A
  • molecular genetic test
  • methylation analysis
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25
Q

Prader-Willi Syndrome is complicated by obesity which increases risk of

A
  • type II DM
  • Heart disease/stroke
  • sleep apnea
  • joint wear and tear
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26
Q

What is the most common inherited intellectual disability

A

Fragile X

27
Q

Fragile X is due to what genetic abnormality? More severe in what patient population

A
  • X linked recessive
    • CGG repeated in FMR1 gene
  • higher incidence/severity in males
  • 90% are new mutations
28
Q

Lyon hypothesis in females

A
  • explains why the phenotypic effect of the X chromosome is the same in the mammalian female which has two X chromosomes as it is in the male which has only one X chromosome
  • one of each two somatic X chromosomes in mammalian females is selected at random and inactivated early in embryonic development
29
Q

clinical presentation

  • intellectual impairment
  • developmental delay
  • autistic behaviors
  • hyperactivity
  • anxiety
  • behavior/tantrums
  • sz
A

Fragile X

30
Q

Blue iris is associated with

A

Fragile X

31
Q

What cardiac abnormality is associated with Fragile X

A

Mitral valve prolapse

32
Q

clinical presentation

  • soft smooth skin
  • macrocephaly with prominent forehead and chin
  • large ears and narrow face
  • pes planus, hypotonia
  • orchidism after puberty
A

Fragile X

33
Q

Fragile X is associated with what 2 pre-mutations

A
  • primary ovarian insufficiency (FXPOI)
  • tremor/ataxia syndrome (FXTAS)
34
Q

DiGeorge Syndrome is autosomal . What gene is affected

A
  • autosomal dominant
    • most often occurs randomly
  • chromosome 22 defect: 22q11.2 deletion
35
Q

What is the classic triad of DiGeorge Syndrome

A
  1. Cardiac abnormalities
  2. Hypoplastic thymus: variable T-cell deficits
  3. Hypocalcemia
    • underdeveloped parathyroid
36
Q

DiGeorge syndrome can also present with

A
  • craniofacial abnormalities
    • low set ears, wide set eyes, underdeveloped chin, bulbous nose tip
  • cleft palate
  • GU abnormalities
37
Q

How is DiGeorge diagnosed

A
  • decreased CD3 + T cells + clinical findings
  • initial eval: urgent Echo
38
Q

Complete DiGeorge syndrome has a life expectancy of . What is the tx for this patient

A
  • less than 1 year without treatment
  • Tx:
    • thymic transplant
    • HCT: hematopoietic cell transplant
39
Q

What causes Klinefelter syndrome

A

47, XXY

40
Q

clinical presentation

  • male
  • tall
  • narrow shoulders
  • microorchidism
  • gynecomastia
  • mild language delay and learning disability
A

Klinefelter syndrome

41
Q

What levels of testosterone, FSH, and LH would you expect in Klinefelter syndrome

A
  • testosterone low
  • FSH/LH elevated
42
Q

can males with Klinefelter syndrome have children

A
  • 50% may be able to father a child with assistive technology
43
Q

What causes Turner’s syndrome

A
  • females with 45, X
44
Q

patients with Turner’s syndrome are at a higher risk for

A

all X-linked recessive disorders

45
Q

clinical presentation

  • female
  • short
  • low hairline
  • webbed neck
  • broad chest with wide spaced nipples
  • pigmented nevi
  • streaked gonads
  • amenorrhea
  • Horseshoe kidney
  • average intellect
A

Turner’s syndrome

46
Q

patients with Turner’s syndrome have what cardiac abnormalites

A
  • bicuspid AV (aortis stenosis)
  • coarctation of aorta
  • HTN
47
Q

management of turner’s syndrome

A
  • infertility: IVF?
  • estrogen and cyclic progesterone to stimulate puberty and assist with bone density
  • monitor for gonadal malignancy
48
Q

What is Patau syndrome

A

Trisomy 13

49
Q

clinical presentation

  • cleft lip and palate
  • holoprosencephaly
  • rocker bottom
  • CHD
A

Patau syndrome

50
Q

life expectancy of Patau syndrome

A
  • majority die in utero
  • <5% survive beyond 6 months
51
Q

defect in trisomy 13 is in

A
  • prechordal mesoderm: midline craniofacial, eyes, forebrain
52
Q

What is Edwards syndrome

A
  • Trisomy 18
53
Q

female to male ratio in Edwards syndrome

A

F:M = 3:1

54
Q

clinical presentation

  • intrauterine growth restriction with low birth weight
  • hypertonia/spasticity
  • horseshoe kidney
  • omphalocele
  • CHD
A

trisomy 18

55
Q

Edwards syndrome is associated with what cardiac defects

A
  • VSD
  • PDA
56
Q

prognosis trisomy 18

A
  • majority die in utero
  • 5% survive beyond 1 yr
  • school age and adulthood is possible
57
Q

What is down syndrome

A

Trisomy 21; most common chromosomal abnormality

58
Q

what increases risk of Trisomy 21

A

advanced maternal age

59
Q

clinical presentation

  • open mouth
  • protruding furrowed tongue
  • CHD (50%)
  • hypotonia
  • joint laxity
  • transverse palmar crease
A

Trisomy 21

60
Q

can females with Trisomy 21 get pregnancy

A

yes, females are fertile

61
Q

when should pregnant women be screened for Trisomy 21

A
  • advanced maternal age
  • following concerning features noted on US
  • parenteral balanced robertsonian translocation
  • previous h/o trisomy pregnancy
62
Q

What screening tests are available

A
  1. Triple test: AFP, hCG, unconjugated estriol
  2. U/S
  3. fetal karyotype
    1. CVS: 1st trimester
    2. amniocentesis: 2nd trimester
    3. FISH
63
Q

FISH: fluorescent in situ hybridization targets chromosomes

A
  • 13, 18, 21, X, and Y

PEDS II final (3 decks)

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