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anatomy 1-9 > L7: principles of congenital malformation > Flashcards

L7: principles of congenital malformation Flashcards

1
Q

What is teratology?

A

Study of monsters

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2
Q

teratology deals with

A

It deals with causes, mechanisms and patterns of abnormal

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3
Q

Why is organogenesis is a critical period (embryonic period)?

A

Because most organs are formed so a lot of things can go wrong

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4
Q

Why is it important to know about birth defects?

A

Because these are the leading cause of infant mortality

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5
Q

birth defect could be

A

May be structural, functional (like renal agenesis), metabolic, behavioral or hereditary

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6
Q

most birth defects are associated with what stage

A

Most are associated with early stages of development

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7
Q

The term ‘Teratology’ was coined by

A

Etienne Geoffrey St. Hilaire Literal

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8
Q

What is a teratogen?

A

A teratogen is any agent that may cause developmental disruptions

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9
Q

What does rubella virus cause?

A

that rubella virus is a cause of an identifiable syndrome of abnormal development,
cataracts, cardiac defects and deafness

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10
Q

what is the story of thalidomide and the medical community?

A

In early 1960s pregnant woman use to take thalidomide to prevent nausea, but this
caused the baby to be born without limbs > sensitized the medical community

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11
Q

How did Anatomical accuracy of ancient art help us?

A

Anatomical accuracy of ancient art often makes it possible to diagnose specific condition
or syndrome

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12
Q

Chalk carving from New Ireland in South Pacific showing dicephalic, dibrachic conjoined
twins. Note also the “collar” beneath the heads. (the actual disease was what)?

A

This “collar” is a representation of cystic hygroma colli (a benign neoplastic cystic tumor
of the neck of lymphatic origin) shown in the photograph of a malformed fetus.

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13
Q

The bird-boy of Paré (1520) represented much more imaginative, hybrids of humans and
Animals. the disease was…

A

Stillborn fetus with malformations those were sirenomelia (fused legs). Compare with the
lower part of the bird-boy.

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14
Q

What causes sirenomelia

A

Gestational Diabetes may induce abnormal migration of mesoderm leading to fused legs

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15
Q

What are the Major causes of congenital malformations?

A
  1. Multifactorial 55% > several causes =we do not know
  2. genetics 30%
  3. environmental 15% > lifestyle, drugs abuse, alcohol
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16
Q

why is the embryonic period the most critical period?

A

• Organogenesis > there is no time where the baby is 100% safe

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17
Q

Rubella virus common malformation are

A

Cataract and heart malformations Deafness

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18
Q

Thalidomide

A

Reduction defects of limbs

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19
Q

Androgenic steroids

A

Female external genitalia

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20
Q

Coumadin

A

Nasal hypoplasia

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21
Q

Anticoagulants

A

possible mental retardation

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22
Q

Radioiodine therapy

A

Fetal thyroid deficiency

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23
Q

Tetracycline(antibiotic)

A
  • Staining of enamel in primary teeth

- Staining of crowns of permanent teeth

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24
Q

XO (missing X), phenotype&clinical complement?

A

Phenotype: Immature female

Clinical Complement: Turner syndrome

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25
Q

XXY (extra X)

A

Phenotype: Male

Clinical Complement: Klinefelter syndrome

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26
Q

XYY (extra Y)

A

Phenotype: Male

Clinical Complement: Normal appearance; reputed difficulty, with impulsive behavior

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27
Q

XXX (extra X)

A

Phenotype: Female
Clinical Complement: Normal appearance, mental retardation
(1/3rd of cases), fertile (in many cases)

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28
Q

Define Trisomy?

A
  • These are usually fatal.

* 3 copes of an autosomal chromosome

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29
Q

what is the most common abnormalities of autosome numbers?

A

trisomy

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30
Q

When does trisomy increase?

A

These occur with increasing frequency as maternal age increases.

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31
Q

example of trisomy

A
  1. Trisomy 13 (Patau syndrome)
  2. Trisomy 18 (Edwards syndrome)
  3. Trisomy 21 (Down syndrome)
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32
Q

Describe Infants condition if they have Trisomy 13 (Patau syndrome) or Trisomy 18 (Edwards
syndrome)?

A

Infants with Trisomy 13 (Patau syndrome) and Trisomy 18 (Edwards syndrome) are
severely malformed and mentally retarded and usually die early in infancy.

33
Q

Describe Infants condition if they have Trisomy 21 (Down syndrome)?

A

Infants with Trisomy 21 (Down syndrome) are typically mentally retarded

34
Q

What are the characteristics of Trisomy 21 (Down syndrome)?

A

o facial features

o heart defects

o intestinal anomalies

o broad hands

o the palmer surface is marked by transverse simian crease.

35
Q

AUTOSOMAL DOMINANT

A

need one copy to show phenotype

36
Q

examples of autosomal dominant

A
  1. Achondroplasia
  2. Aniridia
  3. Polycystic kidney disease (adult-onset, type 3)
37
Q

Achondroplasia

A

Dwarfism > shortening of limbs

38
Q

Aniridia

A

Absence of iris(usually not complete)

39
Q

Polycystic kidney disease

adult-onset, type 3

A

Numerous cysts in kidneys

40
Q

AUTOSOMAL RECESSIVE

A

need Two copy to show phenotype

41
Q

examples of autosomal recessive

A
  1. Albinism

2. Polycystic kidney disease (prenatal type 1)

42
Q

Albinism

A

Absence of pigmentation

43
Q

Polycystic kidney disease (prenatal type 1)

A

Numerous cysts in the kidneys

44
Q

X-LINKED RECESSIVE

A

males are more susceptible

45
Q

examples of X-LINKED RECESSIVE

A
  1. Hemophilia

2. Hydrocephalus

46
Q

Hemophilia

A

Defective blood clotting

47
Q

Hydrocephalus

A

Enlargement of cranium

48
Q

Rubellavirus (fetal)

A

Disease: German measles

Congenital defects: Cataracts, deafness, CVS defects, growth retardation

49
Q

Cytomegalovirus

A

Disease: Cytomegalic inclusion

Congenital defects: Cephalic deformities, intrauterine growth retardation

50
Q

SPIROCHETES: Teponema pallidum

A

Disease: Syphilis

Congenital defects: Dental anomalies, deafness, mental
retardation, skin & bone lesions, meningitis

51
Q

PROTOZOA: Toxoplasma gondi

A

disease: Toxoplasmosis

Congenital defects: Cephalic deformities, mental
retardation, prematurity

52
Q

Hyperthermia (High temperature)

A

Anencephaly, spina bifida, intellectual disability

53
Q

Ionizing radiation

A

Microcephaly(small head), spina bifida (failure to close the caudal pore), cleft palate, limb defects

54
Q

Alcohol

A

Growth & mental retardation, facial & trunk malformations

55
Q

Anticoagulants

A

Skeletal abnormalities, nasal hypoplasia, anomalies of the eyes, neck, CNS

56
Q

Anticonvulsants

A

Neural tube defects, mental retardation, poor growth, facial defects

57
Q

Antithyroid drugs

A

Fetal goiter, hypothyroidism

58
Q

Chemo-therapeutic agents

A

Variety of major anomalies throughout body

59
Q

Industrial solvents

A

Spontaneous abortion, prematurity, low birth weight, heart,

craniofacial, and neural tube defects

60
Q

Lead

A

Growth retardation, neurological disorders

61
Q

Lithium

A

Heart anomalies

62
Q

Organic mercury

A

Mental retardation, cerebral atrophy, spasticity, blindness

63
Q

Retinoic acid

A

Defects related to derivatives of neural crest

64
Q

Streptomycin

A

Hearing loss, auditory nerve damage

65
Q

Tetracycline

A

Hypoplasia and staining of tooth enamel, staining of bones

66
Q

Thalidomide

A

Limb defects, ear defects, cardiovascular anomalies

67
Q

Valproic acid

A

Neural tube defects; heart, craniofacial, and limbs

68
Q

Androgen

A

Masculinization of female genitalia, accelerated genital development in males

69
Q

Diethylstilbestrol

A

Malformation of the uterus, uterine tubes, and upper vagina; vaginal cancer; malformed testes

70
Q

Maternal diabetes

A

Various malformations; heart and neural defects most common

71
Q

Maternal obesity

A

Neural tube defects, heart defects, omphalocoele

72
Q

what are Screening tools?

A
  1. Maternal serum screening-Serum alpha fetoprotein
  2. Amniocentesis
  3. Chorionic villus
73
Q

Maternal serum screening-Serum alpha fetoprotein

A

sample of mother blood > indicate

down syndrome

74
Q

Amniocentesis

A

analyzing sample of ammonia attic fluid

75
Q

Chorionic villus

A

sampling sample of the chorion (placenta)

76
Q

What is Clubfoot?

A
  • It a disease caused by decrease or absence of amniotic fluid
  • Structural anomaly
77
Q

What is a teratogen?

A

• It is an agent that can produce a congenital anomaly or raise the incidence of an
anomaly in the population

78
Q

What does Teratogenicity of an agent depend on?

A
  1. critical periods of development
  2. the amount of the agent or dose of the drug
  3. genetic constitution (genotype) of the embryo

anatomy 1-9 (9 decks)

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