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Phase 2 PEDs > Congenital syndromes > Flashcards

Congenital syndromes Flashcards

1
Q

Trisomy 21 is AKA?

A

Downs syndrome

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2
Q

RF of Tri-21?

A

Increased maternal age

Parental genetics

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3
Q

All children w/ down syndrome should have?

A

Chromosomal analysis

- if translocation present - test parents too

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4
Q

What age is Tri-21 much more susceptible?

A

35yo (1:200)

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5
Q

Phenotypic features of Tri-21?

A

Generalized hypotonia - Decreased Moro reflex
Small head
Single palmar crease
Wide - 1st toe space
Short stubby fingers (short mid-5th phalanx)

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6
Q

Single palmar crease is AKA?

A

Simian

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7
Q

Characteristic face of tri-21?

A 
Up slanting palpebral fissures
Epicanthal folds
Flat nasal bridge (hypoplasia)
Small irregular ears
Macroglossia
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8
Q

100% of all tri-21 will have what medical complication?

A

MR (33% of all MR)

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9
Q

Tri-21 medical complications

A 
Hearing loss
Eye defects
Polycythemia/Leukemia
- Cardiac defects
- GI defects
-Thyroid disease
-Skeletal instability
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10
Q

Tri-21 hearing loss will mostly - Sensorineural or Conductive?

A

Majority - sensorineural

Conductive will be dysplasia of ossicles or scarring due to RPT ear infections

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11
Q

Eye defects of trisomy 21?

A

Brushfield spots
Cataracts
Refractive errors
Strabismus (cross eyed)

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12
Q

Cardiac defects of tri-21?

A

ASD or VSD (L>R shunts) leads to >

- Pulm HTN or irreversible HF (Eisenmenger syndrome)

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13
Q

TXT for Tri-21 heart defects is?

A

Early surgical reversal for large defects

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14
Q

GI defects of tri-21?

A

Esophageal or duodenal atresia

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15
Q

Duodenal atresia XR will show?

A

Double bubble sign

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16
Q

Esophageal or duodenal atresia TXT is?

A

Immediate surgery

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17
Q

Skeletal defect of Tri-21?

A

Atlantoaxial instability

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18
Q

How often should hearing be eval for Tri-21?

A

Hearing screen Q/6mo until 3yo > Then annually

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19
Q

How often should eyes be eval for Tri-21?

A

1st exam before 6mo > then annually

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20
Q

When should C-spine XR be ordered for Tri-21?

A

By 3-5yo

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21
Q

Annual labs performed for Tri-21?

A

TSH, CBC, Celiac screen

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22
Q

Avg life span of tri-21?

A

60yrs (CHD will shorten)

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23
Q

MC drug induced congenital defect is?

A

Fetal alcohol syndrome

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24
Q

3 most common causes of MR?

A

1 - Downs syndrome (33%)

3- Fetal alcohol syndrome

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25
Q

RFs of FAS?

A

Mom >30yo
Hx binge drinkning
Low socieconomic

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26
Q

FAS facial features? Common

A

MR and Growth retardation
Short palpebral fissures (+- epicanthal folds)
Indistinct or smooth philtrum
Thin upper lip

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27
Q

FAS les common features?

A

Flat mid-face (short nose - upturned)
Underdeveloped ear (railroad track)
Ptosis
Small head/jaw

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28
Q

Micrognathia is?

A

Small mandible

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29
Q

Extremity defect of FAS?

A

Clinodactyly

Hockey stick crease - palm

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30
Q

Clinodactyly is?

A

MC 5th finger rotated in comparison to plane of hand

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31
Q

Cardiac defects of FAS?

A

ASD, VSD

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32
Q

Developmental defects of FAS?

A

MR
Fine motor delay
ADHD

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33
Q

FAS prevention?

A

Mom - referral if >7drinks/wk or multiple >3 drinks/time

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34
Q

Fragile X features

A

Moderate-severe MR
Developmental/neuro issues
Physical attributes

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35
Q

Developmental/neuro issues of Fragile-x?

A 
Hyperarousal
Anxiety, mood labile
Stereotypy - (hand flap)
Epilepsy/seizures
Autism
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36
Q

Physical attributes of Fragile-x?

A

Oblong face/large ears
LRG testicles
Connective tissue laxity
Hypotonia

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37
Q

Dx of fragile x syndrome?

A

DNA amplification w/ direct analysis

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38
Q

TXT of fragile-x?

A

Genetic counseling
Special ed
Autism referral precaution
Neuro for seizures

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39
Q

Turner syndrome - Chromo designation?

A

45XO

  • 50% lack X
  • 25% abnl x
  • 25% mosiac
40
Q

Physical traits of 45XO?

A

Short stature
webbed neck
Shield chest (widely spaced nipples)
Triangular face

41
Q

Neonates w/ 45XO may present w/?

A

Extremity edema

42
Q

45XO mental ability is?

A

NL; however, poor visual/spatial skills

Good verbal skills

43
Q

45XO complications?

A 
Coarctation of aorta
Bicuspid aortic valve
Early HTN
Amenorrhea/infertility
Lack 2ndy sex characteristics
Endocrine d/o
44
Q

Endocrine d/o’s of 45XO?

A

Hpothyroidism
DM type 1
Osteoporosis

45
Q

Dx of 45XO?

A

Direct karyotyping

46
Q

TXT of 45XO?

A

Cardiology referral - Echo/MRI/ECG

Endo referral - GH initiation(childhood)/Estg at 14yo

47
Q

Labs monitored for 45XO?

A

TSH, CMP, UA annually

48
Q

Klinefelter syndrome Chromo designation?

49
Q

47XXY phenotypically is abnl when?

A

Puberty - will notice

50
Q

47XXY physical traits are a result of?

A

Testosterone deficiency

51
Q

47XXY physical traits present as?

A

Small testes (hypogonadism)
Infertility (semnifierous tubule fx lost)
Gynecomastia 50% / Tall feminine build (wide hips)
Decreased male hair pattern

52
Q

47XXY mental capacity?

A

Low-normal IQ

53
Q

Dx 47XXY by?

A

Direct karyotyping - if features seen
Barr body can screen
Hormone levels (LH, FSH, Testosterone)

54
Q

47XXY hormonal lab results (high/low)?

A

Increased LH/FSH

Low testosterone

55
Q

TXT of 47XXY?

A

Testosterone replacement

- infertility - harvest sperm

56
Q

47XXY increases the risk of what condition considerably?

A

Breast cancer x16-30 of other men

57
Q

Marfan syndrome is autosomal recessive or dominant?

58
Q

Marfan syndrome genetic mutation that is present?

A

Fibrillin 1 gene of chromo 15

59
Q

Marfan syndrome features?

A

Dilation of aortic root > aortic dissection
Long legs - arms span exceeds hgt
Arachnodactyly (long fingers) (POS thumb or wrist sign)
Scoliosis or kyphosis
Lens dislocation (ectopia lentis)
Hypermobile joints

60
Q

Dx of Marfan syndrome?

A

Based clinically - FISH study will confirm

61
Q

Txt of Marfan syndrome?

A

Beta blockers
No vigorous exercise
Aortic U/S (elective aortic root replacement PRN)

62
Q

2nd most common trisomy?

63
Q

Survivability of tri-18?

A

1st trimester - 95% abort
<10% survive to 1yo
5% live past 1yr old

64
Q

3rd most common trisomy?

65
Q

Survivability of tri-13?

A

92% Fatal w/in 1st yr of life

66
Q

Tri-13 common feature?

A

Congenital aplasia cutis - Punched out scalp lesion

67
Q

Goiter present on delivery may indicate?

A

Inborn error of metabolism (Iodide/TSH)

Placental passage of antithyroid Rx given to mom.

68
Q

TXT of congenital hypothyroidism

A

Levothyroxine (w/in 1st mo of life - IQ = NL)

69
Q

Types of inborn errors of metabolism?

A

Phenyl-keton-uria
Homo-cystin-uria
Maple syrup urine disease
Hereditary fructose intolerance

70
Q

Phenylketonuria is autosomial Recessive or dominant?

71
Q

Phenylketonuria is due to?

A

Decreased Tyrosine

- Defect in hydroxylation of phenylalanine to form tyrosine

72
Q

Phenylketonuria primarily affects what organ?

73
Q

Phenylketonuria mental progression from birth?

A

NL infant - If un-TXT = severe MR - IQ=30

74
Q

Phenylketonuria Dx is made by?

A

Newborn screen - PKU - quantitative amino acid

75
Q

TXT of Phenylketonuria?

A

Must TXT w/in 1st 10d to protect intelligence

  • Phenylalanine diet restriction
  • Modified tetrahydrobiopterin
76
Q

Complication of Phenylketonuria in utero?

A

Maternal PKU syndrome - Increased PKU in mom

77
Q

Homocystinuria is autosomal recessive or dominant?

78
Q

Homocystinuria involves what organ?

A

Brain

Connective tissue/vascular system

79
Q

Homocystinuria is?

A

Cystathionine Beta-synthase deficiency

  • increased Homocystieine
  • increased methionine
80
Q

Homocystinuria features?

A 
Dislocated lenses
Long/slender extremities and arachnodactyly
Malar flushing
Livedo reticularis
Scoliosis
Pectus excavatum or carinatum
Genu valgum
Thrombosis
MR or psych illness
81
Q

TXT for Homocystinuria is?

A

1st - give pyridoxine and folic acid

2nd - Methionine-restricted diet, betaine, cystine

82
Q

Maple syrup urine disease is AKA?

A

Branched chain ketoaciduria

83
Q

Maple syrup urine disease is an autosomal recessive or dominant condition?

A

Autosomal recessive

84
Q

Maple syrup urine disease is common of what region/population?

A

Pennsylvania Mennonites

85
Q

Maple syrup urine disease features?

A 
Maple syrup urine odor
Poor feeding
Vomiting
Tachypnea
CNS depression
86
Q

Maple syrup urine disease begins when?

A

W/in 1-4wks of birth

87
Q

Hallmark of Maple syrup urine disease is?

A

Profound CNS depression

  • Alternating hypo/hyper-tonia (extensor spasm)
  • Opisthotonos
  • seizures
88
Q

Dx of Maple syrup urine disease?

A

Labs - elevated

  • Leucine/isoleucine
  • Valine
  • Alloisoleucine
89
Q

Txt of Maple syrup urine disease?

A

Leucine-restricted diet
Dialysis - during acidotic crisis
Liver transplant

90
Q

Definitive TXT of Maple syrup urine disease?

A

Liver transplant

91
Q

Complication of Maple syrup urine disease?

A

Kidney failure

Cerebral edema

92
Q

Hereditary fructose intolerance is AKA?

A

Fructose-1-phosphate aldolase deficiency

93
Q

F1P-aldolase deficiency causes what?

A

Increased F1P

94
Q

Hereditary fructose intolerance presents as?

A

Emesis
Hypoglycemia
Severe liver/kidney disease

95
Q

Hereditary fructose intolerance TXT?

A

Eliminate fructose and sucrose from diet

Phase 2 PEDs (23 decks)

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