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Pediatric Clerkship > Genetics & Growth/Devo > Flashcards

Genetics & Growth/Devo Flashcards

1
Q

A newborn baby has decreased tone, oblique palpebral fissures, a simian crease, big tongue,
white spots on his iris

A

Down syndrome

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2
Q

Down syndrome–expected IQ?

A

moderate MR. Speech, gross and fine motor skill delay

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3
Q

Down syndrome–common heart complications

A

VSD, endocardial cushion defects

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4
Q

Down syndrome–common GI complications

A

Hirschsprung’s, intestinal atresia, imperforate anus, annular pancreas

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5
Q

Down syndrome–common endocrine complications

A

hypothyroidism

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6
Q

Down syndrome–common MSK complications

A

atlanto-axial instability

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7
Q

Down syndrome–common neurological complications

A

inc risk Alzheimer by 30-35 [APP is on Chr21]

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8
Q

Down syndrome–common cancer complications

A

10x inc risk ALL

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9
Q

Omphalocele, rocker-bottom feet/ hammer toe, microcephaly and clenched hand, multiple others

A

Edward’s syndrome (trisomy 18)

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10
Q

Holoprosencephaly, severe mental retardation and microcephaly, cleft lip/palate, multiple others

A

Patau’s syndrome (trisomy 13)

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11
Q

14 year old girl with no breast development, short stature and high FSH

A

Turner’s syndrome [XO]

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12
Q

MC genotype of aborted fetuses

A

XO (Turner’s syndrome)

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13
Q

Turner’s syndrome–assoc anomalies

A

Horseshoe kidney, coarctation of aorta, bicuspid aortic valve

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14
Q

Turner’s syndrome–tx

A

Estrogen replacement for secondary sex char, and avoid osteoporosis

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15
Q

18 year old tall, lanky boy with mild MR has gynecomastia and hypogonadism

A

Klinefelter’s syndrome

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16
Q

Klinefelter’s syndrome–assoc cancer risk

A

inc risk gonadal malignancy

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17
Q

Café-au-lait spots, seizures large head

A

Neurofibromatosis (autosomal dominant)

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18
Q

Mandibular hypoplasia, glossoptosis, cleft soft palate. W/ FAS or Edwards

A

Pierre Robin Sequence

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19
Q

Broad, square face, short stature, self-injurious behavior

A

Smith Magenis [del Chr17]

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20
Q

Hypotonia, hypogonadism, hyperphagia, skin picking, agression

A

Prader-Willi [del paternal Chr15]

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21
Q

Seizures, strabismus, sociable w/ episodic laughter

A

Angelman [del maternal Chr15]

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22
Q

Elfin-appearance, friendly, increased empathy and verbal reasoning ability

A

Williams [del chr7]

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23
Q

IUGR, hypertonia, distinctive facies, limb malformation, self-injurious behavior, hyperactive

A

Cornelia de Lange

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24
Q

Microcephaly, smooth philtrum, thin upper lip, ADHD-like behavior

A

Fetal alcohol syndrome

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25
Q

Most common cause of mental retardation

A

FAS

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26
Q

Most common type of MR in boys, Macrocephaly, macro- orchidism, large ears

A

Fragile X syndrome [CGG repeats on the X-chr w/ anticipation]

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27
Q

Autosomal dominant, or assoc w/ advanced paternal age. Short palpebral fissures, white forelock and deafness

A

Waardenburg syndrome

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28
Q

2 y/o M w/ multiple ear infxns, diarrheal episodes & pneumonias. No tonsils seen on exam

A

Bruton agammaglobulinemia, X-linked, infx start at 6-9mo

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29
Q

Bruton agammaglobulinemia–dx

A

Absence of B cells on flow cytometry, low levels of all Igs

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30
Q

17 y/o F with decreased levels of IgG, IgM, IgE, and IgA but normal numbers of B cells

A

Combined variable immune deficiency (acquired)

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31
Q

Combined variable immune deficiency–complications

A

Increased lymphoid tissue causes increased risk for lymphoma

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32
Q

Most common B-cell defect. Recurrent URIs, diarrhea

A

Selective IgA deficiency

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33
Q

Selective IgA deficiency–complications

A

Anaphylaxis reaction if given blood containing IgA

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34
Q

3wk old M with seizure, truncus arteriosus, micrognathia

A

DiGeorge Syndrome [del chr22]

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35
Q

DiGeorge Syndrome–types of childhood infxns

A

Candida, viruses, PCP pneumonia

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36
Q

Infant w/ severe infxns, no thymus or tonsils; severe lymphopenia

A

SCID [MC is XLR; AR is ADA deficiency]

37
Q

SCID–types of infections

A

bacterial, viral and opportunistic infxns

38
Q

SCID–tx

A

PED EMERGENCY! need BMT by age 1

39
Q

3 y/o M child w/ recurrent swollen, infected lymph nodes in groin and staph aureus skin abscesses

A

Chronic granulomatous disease [X linked]; PMNs can ingest but not kill catalase+ bugs

40
Q

Chronic granulomatous disease–dx

A

Nitrotetrazolium blue (yellow means they have the dz). New test is Flow cytometry w/ DHR-123

41
Q

18mo M baby w/ severe ezcema, petechiae, and recurrent ear infxns

A

Wisckott-Aldrich Syndrome (can have prolonged bleeding s/p circumcision)

42
Q

Wisckott-Aldrich Syndrome–Ig make-up

A

Low IgM, high IgA/IgE, slightly low IgG

43
Q

Newborns lose ___% of birth weight in 1st week. Why?

A

10%; diuresis of extravascular fluid

44
Q

Newborns should regain birth weight by _____

A

2 weeks

45
Q

Newborns should double in weight by

A

6 months

46
Q

Newborns should triple in weight by

A

1 year

47
Q

Newborns have increased 50% of length by ____

A

1 year

48
Q

Newborns double in length by

A

5 years

49
Q

Breast milk is best for babies–T/F

A

TRUE!!

50
Q

Contraindications to breast-feeding (8)

A

Galactosemia, PKU, HIV, HSV on the breast, chemo, Li, Iodide, alcohol

51
Q

Breast milk is ___ dominant, has more ___ and ___, but less ____ than formula. It is also better absorbed

A

whey; lactose; LCFA; iron

52
Q

Diagnose–14 y/o boy, always been below 5% in height. Parents are tall & were “late bloomers”

A

constitutional growth delay

53
Q

In constitutional growth delay, bone age is ___ real age; child is likely to have ___ final adult height

A

less than; normal

54
Q

Diagnose–14 y/o boy, always been below 5% in height. Parents are 5’2” and 4’10”

A

Familial short stature

55
Q

In familial short stature, bone age is _____ real age

A

equal to

56
Q

Diagnose–14 y/o boy, 50% in height, 97% for weight

A

obesity

57
Q

In obese children, bone age is ____ real age

A

greater than

58
Q

What causes bone age > real age

A

obesity, precocious puberty, CAH, hyperthyroidism

59
Q

Diagnose–14 y/o boy, starts out in 50% for height, in the past 2 years is now between the 5%-10%

A

pathologic short stature

60
Q

What is in your ddx for pathologic short stature?

A

craniopharyngioma (vision problems, chect CT), Hypothyroidism (check TFTs), Hypopituitarism (check IgF1), Turners (check karyotype)

61
Q

Reflexes–When head is extended, arms and legs both flex; time period

A

Moro; birth to 4-6mo

62
Q

Reflexes–When you place your finger in palm, flexes hand

A

Grasp; birth to 4-6mo

63
Q

Reflexes–Rub cheek, head turns to that side

A

Rooting; birth to 4-6mo

64
Q

Reflexes–When stimulate dorsum of foot, steps up

A

Placing; birth to 4-6mo

65
Q

Reflexes–When neck is turned to one side, opposite arm flexes and ipsilateral arm extends

A

Tonic neck; birth to 4-6mo

66
Q

Reflexes–When a fall is simulated, arms are extended

A

Parachute; 6-8 month for rest of life

67
Q

What is the CNS origins of primitive reflexes? (2)

A

brainstem and vestibular nuclei

68
Q

Devo Milestones–What can baby do at 6 months?

A

roll over, sits w/ support, creep/crawl, stranger anxiety

69
Q

Devo Milestones–What can baby do at 5yo?

A

skips, copies a triangle, draws person w/ 8-10 parts

70
Q

Devo Milestones–What can baby do at 30 months?

A

walk upstairs w/ alternating feet, stand on 1 foot, knows name, refers to self as “I”

71
Q

Devo Milestones–What can baby do at 4yo?

A

copy cross and square, hop on 1 foot, throw ball overhead, group play and go to toilet alone

72
Q

Devo Milestones–What can baby do at 9mo?

A

sit unsupported, Pincer grasp, walk w/ hand held, object permanence, peak-a-boo, bye-bye

73
Q

Devo Milestones–What can baby do at 3yo?

A

walk downstairs, copy circle, jump with both feed, know age/sex, understand taking turns, count to 3

74
Q

Devo Milestones–What can baby do at 24mo?

A

2-3 word sentences, 50% speech understandable, runs, builds 7-cube tower, holds spoon, helps undress

75
Q

Devo Milestones–What can baby do at 2mo?

A

social smile, cooing, sustains head in plane of body, follows object 180˚, some vowel sounds

76
Q

Urinary continence should be attained by ___.

A

5yo

77
Q

____ urinary incontinence is if it is never achieved, whereas ___ is if it occurs after 6mo period of dryness

A

primary; secondary

78
Q

Urinary incontinence–medical causes to r/o

A

UTI (do a UA), constipation (disimpact) or Diabetes (check sugar)

79
Q

Tx of enuresis

A

(1) behavioral reward system, pee before bed, bell-alarm pad (2) DDAVP/imipramine

80
Q

Fecal continence should be attained by _____

A

4yo

81
Q

MCC fecal incontinence; tx

A

constipation (disimpact), fecal retention; stool softeners, high fiber diet, post-prandial toilet sitting

82
Q

Vaccines–at birth

A

HepB [+HepBIV if mom is HbsAg +]

83
Q

Vaccines–2mo, 4mo, 6mo

A

HepB, Rota, Dtap, HiB, PCV, IPV (inactivated polio vac)

84
Q

Vaccines–start at 6mo and then yearly

A

influenza [contra–egg allergy]

85
Q

Vaccines–at 12 mo

A

MMR, varicella, HepA [live vaccines not for

86
Q

Contraindication to MMR vaccine

A

neomycin or streptomycin allergy

87
Q

Vaccines-before age 2

A

Dtap and 2nd HepA (6mo after first one)

88
Q

Vaccines–before kindergarden

A

last IVP, Dtap, MMR and varicella

89
Q

Vaccines–age 12

A

Tdap booster, meningococcal vaccine, HPV

Pediatric Clerkship (5 decks)

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