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Embryology > final chp 16 congenital bullshit > Flashcards

final chp 16 congenital bullshit Flashcards

1
Q

the three causes of congenital malformations?

A
  • genetic or chromosomal factors
  • environmental factors
  • multifactorial or combination of 1 and 2
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2
Q

what is a teratogen?

A

any agent that can produce a congenital malformation

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3
Q

what is teratology?

A

the study of abnormal development

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4
Q

what is the definition of a sign?

A

objective evidence of disease

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5
Q

what is the definition of symptom?

A

subjective evidence of a disease

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6
Q

what is the definition of syndrome?

A

set of symptoms and signs which occur together

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7
Q

what is etiology?

A

study of the cause of disease

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8
Q

when is the critical period for the nervous system?

A

3rd-7th week

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9
Q

when is the critical period for the cardiac system?

A

4th-6th week

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10
Q

when is the critical period for the ears?

A

4th to 8th week

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11
Q

when is the critical period for the eyes?

A

4th to 8th week

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12
Q

when is the critical period for the limbs?

A

4th to 7th week

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13
Q

what does nondisjunction mean in relation to chromosomal factors?

A
  • chromosomal disorders result from numerical abnormalities

- occurs during to cell division

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14
Q

what is a normal karotype?

A

46,XY or 46XX

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15
Q

what is an abnormal karotype?

A

trisomy

- 47(21)XY or 47 (21)XX

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16
Q

what does trisomy of autosomes mean?

A

when there are three chromosomes present instead of the usual pair

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17
Q

what is trisomy 21 referred to as?

A

downs syndrome

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18
Q

what is the karotype of trisomy 21?

A

47 (21) XX or XY

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19
Q

what is the rate of prevalence of trisomy 21?

A

1:800

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20
Q

what are the physical characteristics of trisomy 21?

A
  • small stature
  • hyperflexed joints
  • hypotonia
  • microcephaly
  • simian crease
  • ulnar loops on all fingers
  • small genitalia
  • flat facial profile
  • dry skin
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21
Q

what are the cognitive characteristics of trisomy 21?

A
  • intellectual disability (mental retardation)

- poor moro reflex

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22
Q

what are the internal physical characteristics of trisomy 21?

A
  • palpebral fissure
  • inner epicanthus
  • ASD,VSD
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23
Q

what is the karotype of trisomy 18

A

47 (18) XX or XY

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24
Q

what is trisomy 18 also known as?

A

edwards syndrome

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25
Q

what are the characteristics of trisomy 18?

A
  • low birth weight
  • failure to thrive
  • severe intellectual disability
  • flexion deformation of fingers
  • overlapping fingers
  • rocker bottom feet
  • VSD,ASD,PDA
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26
Q

what are the characteristics of trisomy X?

A
  • normal to low IQ
  • cardiac, skin and hair, facial are normal
  • scanty menses
  • fertile
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27
Q

what is the other name for trisomy X?

A

triple X or super female syndrome

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28
Q

what is the occurrence of trisomy X?

A

1:700

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29
Q

what is the karotype or trisomy Y?

A

47, XXY male

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30
Q

what syndrome is associated with trisomy with Y?

A

klinefelter syndrome

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31
Q

what is the occurrence of trisomy Y?

A

1:500

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32
Q

what are the characteristics of trisomy Y?

A
  • tall stature
  • normal development
  • IQ average
  • Long legs compared to the trunk
  • Cardiac normal
  • Cryptorchism
  • Hypogonadism
  • chromatin positive
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33
Q

what are the characteristics of trisomy of Y modified klinefelters?

A
  • tall stature
  • normal IQ
  • Hypertelorism
  • Long legs
  • scanty facial hair
  • Crytorchism
  • chromatin negative
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34
Q

what is the occurrence and karotype of modified klinefelters?

A

47XYY
1:1000 male

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35
Q

what are the characteristics of monosomy 21?

A
  • small stature
  • hypotonia
  • cleft palate
  • systolic murmur, ASD, VSD
  • Death occurs in the first year
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36
Q

what is the karotype of monosomy 21?

A

45 (21)XX or XY

37
Q

what is monosomy 21 also known as?

A

anti-downs syndrome

anti-G syndrome

38
Q

ewhat are the characteristics of turners syndrome?

A
  • Horse shoe kidney
  • unilateral renal agenesis
  • lack of breast development
  • infantile external genitalia
  • chromatin negative
39
Q

what is the characteristics of addition of 22?

A

-Cat-eye syndrome or Anal Atresia
-normal development
-inferior coloboma
-ASD
_Anal Atresia-recto-vestibular fistula
-recto-urethral fistula

40
Q

the karotype of deletion of part 5

A

46(5P-)XX or XY

41
Q

what is the karotype of addition of part 22?

A

46 (22Q+) XY or XX

42
Q

what is deletion of part also known as?

A

cry of the cat syndrome

43
Q

what are the characteristics of deletion of part 5?

A
  • intellectual disability
  • low birth weight
  • high pitched cat like cry in infancy
  • hypotonia
  • microcephaly
  • hypertelorism`
44
Q

what are the maternal effects of varicella zoster?

A
  • chicken pox
  • shingles
  • -follows a dermatome
  • -rash,pain,itching
45
Q

what are the fetal/newborn effects of varicella zoster?

A

viremia, can cause miscarriage/abortion

-intrauterine growth retardation (IUGR)

46
Q

what are the maternal effects of herpes?

A
  • Vulvo-vaginitis

- -open sores during outbreak

47
Q

what are the fetal effects of herpes?

A
  • fetal death
  • skin eruptions
  • respiratory/circulatory failure
  • calcification of the brain
48
Q

how many categories of hepatitis is there?

A

five or six

49
Q

what are the maternal effects of hepatitis?

A

Hepatitis….

bit fucking redundant

50
Q

what are the fetal effects of hepatitis?

A
  • fetal hepatitis
  • spontaneous abortion
  • prematurity
51
Q

what are the maternal effects of rubella?

A

german measles

52
Q

what are the fetal effects of rubella?

A
  • congenital rubella syndrome
  • deafness
  • cataracts
53
Q

what are the maternal effects of gnorrhea?

A
  • genital tract infections

- scar tissue can effect the uterine tubes

54
Q

what are the fetal effects of gnorrhea?

A
  • infection of the conjunctiva

- silver nitrate or 20% AgNo3 solution appled to the eyes (old)—now antibiotic

55
Q

what are the maternal effects of toxoplasma gondii?

A

-toxoplasmosis
-can be asymptomatic
-flu like symptoms
>80% of females of childbearing have an immunity to toxoplasma

56
Q

what are the fetal effects of toxoplasma gondii?

A
  • abortion
  • growth and mental retardation
  • cerebral calcification
57
Q

what is a category A drug?

A

drugs for which studies have not shown a risk to the fetus

58
Q

what is a category B

A

drugs with no human studies but animal studies have shown an effect on the fetus

59
Q

what is a category c drug?

A

drug studies are inadequate in both animals and humans to show an effect to the fetus

60
Q

what is category D drug?

A

drugs can definitely cause harm to the fetus but benefits the mother

61
Q

what is a category X drug?

A

drugs that cause harm to the fetus with no benefit to the mother

62
Q

what are the effects of heroin on the fetus?

A

-chromosomal damage
-cns damage
-respiratory depression
the critical period is third trimester

63
Q

what are the effects of salicylate C,D?

A
  • neonatal bleeding

- hemorrhage

64
Q

what is the critical period for salicylate C,D?

A

third trimester

especially before birth

65
Q

what are the effects of ethanol X?

A

-Fetal alcohol syndrome
-growth retardation
-cardiac murmurs
CRITICAL period
-last two trimesters

66
Q

what are the effects of antibiotic on fetal development?

A 
TETRACYCLINE D
-discoloration of teeth
-deafness
CRITICAL period
-second and third trimesters
67
Q

effects of Anticonvulsant?

A 
Phenobarbital D
-hemorrhage
-vertebral defects
CRITICAL periods
-all stages
68
Q

effects of antidiabetic?

A

Insulin B
-Caudal regression syndrome
CRITICAL period
-first trimester

69
Q

effects of anti-inflammatory

A 
Corticones X
-Cleft palate
-skeletal defects
CRITICAL periods
-all stages
70
Q

effects of depressants?

A 
Thalidomine D/X
-Phocomelia
-tetralogy of fallout
-renal agenesis
CRITICAL period
-all stages
71
Q

what are the effects of oral contraceptives X?

A

VACTERL association

72
Q

what does VACTERL mean?

A 
Vertebral defects
Anal Atresia
Cardiovascular anomalies
Tracheal-esophageal-fistula
Esophaeal atresia
Renal anomalies
Limb anomalies
73
Q

describe vertebral anomalies?

A

small or hemivertebra
-only 1/2 of bone formed
70% have vertebral anomalies

74
Q

describe Anal Atresia

A

surgery is required to reconstruct the intestine and anal canal

75
Q

describe cardiovascular anomalies?

A

VSD

ASD

76
Q

describe Esophageal defects?

A

70% of patients

77
Q

describe Renal?

A

50% incomplete formation of the kidneys

35% have single umbilical artery (should have two)

78
Q

describe Limb defects?

A

70% absent or displaced thumbs

  • polydactyly
  • syndactyly
  • forearm defects
79
Q

describe Growth in relationship to VACTERL?

A

growth- low birth weight- difficut gaining weight

normal mental development

80
Q

effects of vitamin K (C)?

A

hyperbilrubinemia

jaundice

81
Q

effects of vitamin A (X)?

A
  • cleft palate

- eye damage

82
Q

effects of caffeine B?

A

the equivalent of one and 1/2 cups of coffee daily increases the miscarriage risk by 80%
-this also includes soda with caffeine

83
Q

effects of Nicotine D

A

IUGR- intrauterine growth retardation

  • premature delivery
  • decrease in the blood flow to the uterus
  • decrease in oxygen-fetal hypoxia
84
Q

units of measurement, what does RAD and REM mean?

A

RAD- Radiation Absorbed Dose

REM- Roentgen equivalent of man

85
Q

most standard X-ray and tests are below radiation dose of?

A

5,000 milli-REM

86
Q

what are the radiation risks to fetus in the first trimester?

A

fetus most sensitive- can cause death

87
Q

what are the radiation risks to fetus in the second trimester?

A

major organs most sensitive- malformations

88
Q

what are the radiation risks to the fetus in third trimester?

A

cell population depleted-leukemia

Embryology (9 decks)

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