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Genetics > Dysmorphology > Flashcards

Dysmorphology Flashcards

exam 1

1
Q

medical specialty of evaluating patients with abnormal physical features

A

dysmorphology

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2
Q

true or false: dysmorphology is subjective and objective

A

true

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3
Q

reasons for genetics referral (7)

A
  • growth problem
  • development and/or neurological concerns
  • structural anomalies/ dysmporhic features
  • hearing loss ( 50% due to genetic etiology)
  • concerning family history
  • infertility. recurrent miscarriage
  • abnormal genetic test results
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4
Q

making a diagnosis

A
  • birth/ pregnancy history
  • developmental/ behavior history
  • medical history
  • family history
  • physical exam
  • lab, radiologic findings
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5
Q

wide inter canthal

A

hypertelorism

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6
Q

narrow inter canthal

A

hyportelorism

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7
Q

microphtalamia

A

small eye

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8
Q

long bridge (nose)

A

Di George

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9
Q

bulbous nose

A

coffin-lowry

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10
Q

greek helmet bridge

A

Wolf-hirshhorn

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11
Q

flat philtrum

A

fetal alcohol syndrome

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12
Q

difference btween major vs minor anomalies

A

major affects function (and may require surgery)

minor is cosmetic

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13
Q

examples of major anomalies

A

cleft lip
congenital heart disease
microtia (small mouth)

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14
Q

examples of minor cosmetic

A

ear pits, single palmar crease, hypertelorism

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15
Q

top of finger is curved

A

clindactyly

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16
Q

fused fingers

A

syndactyly

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17
Q

percent of newborns with major anomaly

A

2-3%

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18
Q

percent of newborns with minor anomaly

A

15%

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19
Q

___-___% infant death & ___-___% deaths after neonatal period are attributed to major anomalies

A

20-30% infant death

30-50% deaths afterwards

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20
Q

true or false: the more minor anomalies you find, the less likely there is a major anomaly

A

false

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21
Q

____% newborns have single minor malformations, ___% of these have a major

A

13.4% single malformation

3% have major

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22
Q

____% newborns have two minor ones. ____% of these have a major

A

0.8% 2 minor

11% major

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23
Q

___% newborns have three or more w/ ___% chance of a major anomaly or intellectual disability

A

0.5% 3 or more minor

20% major

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24
Q

highest cause of birth defects

A

unknown at 43.2%

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25
Q

second and third highest cause of birth defects

A

multifactorial at 23%

chromosomal abnormality 10%

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26
Q

poor formation of tissue

A

malformation

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27
Q

unusual forces on normal tissue

A

deformation

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28
Q

breakdown of normal tissue

A

disruption

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29
Q

abnormal organization of cells in tissue

A

dysplasia

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30
Q

example of malformation

A

cleft lip

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31
Q

example of deformation

A

club feet

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32
Q

example of disruption

A

amniotic bands

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33
Q

example of dysplasia

A

cancer/growth

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34
Q

amniocentisis can cause amniotic bands from forming

A

yes, small risk but biggest risk is miscarriage

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35
Q

when does malformation usually occurs

A

at 8-10 weeks of fetal life

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36
Q

malformation is more likely to have what component?

A

a genetic one

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37
Q

when does deformation usually occurs

A

after 8-10 weeks of gestation

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38
Q

deformation examples

A 
club foot
potter's facies
overlapping toes
plagiocephaly (flat head)
torticollis
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39
Q

examples of malfrormation

A

congenital heart defect
cleft lip
neural tube defect (spina-bifida)

40
Q

Potter’s facies

A

low fluid causes flattening of face and head

41
Q

______ can result in malformation

A

disruption

42
Q

true or false:

disruptions are sporadic and rare

43
Q

it is an environmental disturbance

A

disruption

44
Q

examples of disruption

A 
oligodactyly (amniotic bands)
intestinal atresia
cleft palate (glossoptosis)
45
Q

examples of dysplasia

A

polycystic kidney disease
arachnodactyly
pectus excavatum
skeletal dysplasia

46
Q

Cascade of affects from single known anomaly or mechanical factor

47
Q

Pierre Robin sequence

A

mandibular hypoplasia–> posterior displacement of tongue–> impaired closure of posterior palatal shelves –> posterior (u shaped) cleft palate

48
Q

multiple anomalies thought to be pathogenically related

49
Q

example of a syndrome

A

marfan syndrome

50
Q

example of a sequence

A

Pierre robbin

51
Q

non-random occurrence of multiple anomalies that cannot be explained by chance alone

A

association

52
Q

example of association

A 
VACTERL
vertebral anomalies
anal atresia
cardiac anomalies
tracheoesophageal fistula
esophageal atresia
renal anomalies 
limb anomalies
53
Q

a single development defect that represents an embryological area where an error causes a major anomaly which disturbs the contigous developing areas

A

field defect

54
Q

monotopic

A

field defect

55
Q

example of field defect

A

holoprosencephaly spectrum

56
Q

field defect is more often _____

57
Q

exposure in pregnancy that has a harmful fetal effect

58
Q

rubella, syphillis, CMV, Zika

59
Q

thalidomide, retinoic acid, anti-epileptics

A

medications

60
Q

alcohol, heroin

A

drugs of abuse

61
Q

lead, mercury

A

heavy metals

62
Q

radiation, hyperthermia

A

external agents

63
Q

diabetes mellitus, PKU

A

maternal conditions

64
Q

CVS, amniocentesis

A

procedures

65
Q

syndromes resulting from ______ exposure are named according to the to the times of exposure

66
Q

teratogen exposure within the first 8 weeks

A

embryopathy

67
Q

teratogen after 8 weeks

68
Q

2 weeks from fertilization to implantation teratogen exposure

A

pre-implantation

69
Q

all or none period

A

preimplantation

70
Q

true or false: if only a few cells are injured, compensation is usually possible with continued normal devlopment

71
Q

second through the eight week

72
Q

encompasses organogenesis and most crucial with regard to structural malformation

A

embryonic period

73
Q

period of greatest sensitivity for thalidomide

A

2-34 days post fertilization

74
Q

period of greatest sensitivity for warfarin

A

4-7 post fertilization

75
Q

exposure in 1st trimester causes ______________

A

malformations

76
Q

exposure in 2nd & 3rd trimester

77
Q

weeks 1-2 of development

A

prenatal death

78
Q

weeks 3-7 of development

A

major morphological abnormalities

79
Q

7-38 weeks of development

A

functional defects, minor morphological abnormalities

80
Q

microcephaly

A

zika, fetal alcohol syndrome

81
Q

facial features of upturned nose, mild midfacial hypoplasia, and long upper lip with thin vermilion border
distal digital hypoplasia

A

fetal hydantoin syndrome

82
Q

actuane exposure

A

35% have major malformations, 25% with no malformations have ID

83
Q

Things we look for in a physical diagnosis for genetic disease:

A
  1. Head size and shape
  2. Face shape
  3. Eyes (1/3 eye, 1/3interpupullary distance-1/3 eye)
  4. Nose
  5. Philtrum
  6. Palate shape
  7. Ear anatomy
84
Q

What to look for in Head dismorphology:

A

Head Size and Shape

85
Q

What to look for in Eyes dismorphology:

A

Hypo/Hypertelorism, microphtalmia

86
Q

What to look for in nose dismorphology:

A

Shape and filtrum

87
Q

What to look for in palate dismorphology:

88
Q

What to look for in ear dismorphology:

A

anatomy and positioning

89
Q

microstomia

A

small mouth

90
Q

Frontal bossing

A

front of forehead

91
Q

Palpebral shape/slant

A

eyelid shape or slant

92
Q

Coloboma

A

malformation of the eye

93
Q

Teratogens have a ______ relationship

A

Teratogens have a dose-response relationship

94
Q

Teratogen that causes dramatically short limbs on infants

A

thalidomide

95
Q

Flat facial features, hypoplasia of distal parts of the distal parts of the fingers/nails

A

Warfarin syndrome

Genetics (7 decks)

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