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Dysmorphology Flashcards

exam 1 (95 cards)

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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
second and third highest cause of birth defects
multifactorial at 23% | chromosomal abnormality 10%
26
poor formation of tissue
malformation
27
unusual forces on normal tissue
deformation
28
breakdown of normal tissue
disruption
29
abnormal organization of cells in tissue
dysplasia
30
example of malformation
cleft lip
31
example of deformation
club feet
32
example of disruption
amniotic bands
33
example of dysplasia
cancer/growth
34
amniocentisis can cause amniotic bands from forming
yes, small risk but biggest risk is miscarriage
35
when does malformation usually occurs
at 8-10 weeks of fetal life
36
malformation is more likely to have what component?
a genetic one
37
when does deformation usually occurs
after 8-10 weeks of gestation
38
deformation examples
``` club foot potter's facies overlapping toes plagiocephaly (flat head) torticollis ```
39
examples of malfrormation
congenital heart defect cleft lip neural tube defect (spina-bifida)
40
Potter's facies
low fluid causes flattening of face and head
41
______ can result in malformation
disruption
42
true or false: | disruptions are sporadic and rare
true
43
it is an environmental disturbance
disruption
44
examples of disruption
``` oligodactyly (amniotic bands) intestinal atresia cleft palate (glossoptosis) ```
45
examples of dysplasia
polycystic kidney disease arachnodactyly pectus excavatum skeletal dysplasia
46
Cascade of affects from single known anomaly or mechanical factor
sequence
47
Pierre Robin sequence
mandibular hypoplasia--> posterior displacement of tongue--> impaired closure of posterior palatal shelves --> posterior (u shaped) cleft palate
48
multiple anomalies thought to be pathogenically related
syndrome
49
example of a syndrome
marfan syndrome
50
example of a sequence
Pierre robbin
51
non-random occurrence of multiple anomalies that cannot be explained by chance alone
association
52
example of association
``` VACTERL vertebral anomalies anal atresia cardiac anomalies tracheoesophageal fistula esophageal atresia renal anomalies limb anomalies ```
53
a single development defect that represents an embryological area where an error causes a major anomaly which disturbs the contigous developing areas
field defect
54
monotopic
field defect
55
example of field defect
holoprosencephaly spectrum
56
field defect is more often _____
midline
57
exposure in pregnancy that has a harmful fetal effect
teratogen
58
rubella, syphillis, CMV, Zika
infection
59
thalidomide, retinoic acid, anti-epileptics
medications
60
alcohol, heroin
drugs of abuse
61
lead, mercury
heavy metals
62
radiation, hyperthermia
external agents
63
diabetes mellitus, PKU
maternal conditions
64
CVS, amniocentesis
procedures
65
syndromes resulting from ______ exposure are named according to the to the times of exposure
teratogen
66
teratogen exposure within the first 8 weeks
embryopathy
67
teratogen after 8 weeks
fetopathy
68
2 weeks from fertilization to implantation teratogen exposure
pre-implantation
69
all or none period
preimplantation
70
true or false: if only a few cells are injured, compensation is usually possible with continued normal devlopment
true
71
second through the eight week
embryonic
72
encompasses organogenesis and most crucial with regard to structural malformation
embryonic period
73
period of greatest sensitivity for thalidomide
2-34 days post fertilization
74
period of greatest sensitivity for warfarin
4-7 post fertilization
75
exposure in 1st trimester causes ______________
malformations
76
exposure in 2nd & 3rd trimester
IQ effect
77
weeks 1-2 of development
prenatal death
78
weeks 3-7 of development
major morphological abnormalities
79
7-38 weeks of development
functional defects, minor morphological abnormalities
80
microcephaly
zika, fetal alcohol syndrome
81
facial features of upturned nose, mild midfacial hypoplasia, and long upper lip with thin vermilion border distal digital hypoplasia
fetal hydantoin syndrome
82
actuane exposure
35% have major malformations, 25% with no malformations have ID
83
Things we look for in a physical diagnosis for genetic disease:
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
What to look for in Head dismorphology:
Head Size and Shape
85
What to look for in Eyes dismorphology:
Hypo/Hypertelorism, microphtalmia
86
What to look for in nose dismorphology:
Shape and filtrum
87
What to look for in palate dismorphology:
shape
88
What to look for in ear dismorphology:
anatomy and positioning
89
microstomia
small mouth
90
Frontal bossing
front of forehead
91
Palpebral shape/slant
eyelid shape or slant
92
Coloboma
malformation of the eye
93
Teratogens have a ______ relationship
Teratogens have a dose-response relationship
94
Teratogen that causes dramatically short limbs on infants
thalidomide
95
Flat facial features, hypoplasia of distal parts of the distal parts of the fingers/nails
Warfarin syndrome

Genetics (7 decks)

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