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anatomy FB1 > 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
XXY (extra X)
Phenotype: Male | Clinical Complement: Klinefelter syndrome
26
XYY (extra Y)
Phenotype: Male | Clinical Complement: Normal appearance; reputed difficulty, with impulsive behavior
27
XXX (extra X)
Phenotype: Female Clinical Complement: Normal appearance, mental retardation (1/3rd of cases), fertile (in many cases)
28
Define Trisomy?
* These are usually fatal. | * 3 copes of an autosomal chromosome
29
what is the most common abnormalities of autosome numbers?
trisomy
30
When does trisomy increase?
These occur with increasing frequency as maternal age increases.
31
example of trisomy
1. Trisomy 13 (Patau syndrome) 2. Trisomy 18 (Edwards syndrome) 3. Trisomy 21 (Down syndrome)
32
Describe Infants condition if they have Trisomy 13 (Patau syndrome) or Trisomy 18 (Edwards syndrome)?
Infants with Trisomy 13 (Patau syndrome) and Trisomy 18 (Edwards syndrome) are severely malformed and mentally retarded and usually die early in infancy.
33
Describe Infants condition if they have Trisomy 21 (Down syndrome)?
Infants with Trisomy 21 (Down syndrome) are typically mentally retarded
34
What are the characteristics of Trisomy 21 (Down syndrome)?
o facial features o heart defects o intestinal anomalies o broad hands o the palmer surface is marked by transverse simian crease.
35
AUTOSOMAL DOMINANT
need one copy to show phenotype
36
examples of autosomal dominant
1. Achondroplasia 2. Aniridia 3. Polycystic kidney disease (adult-onset, type 3)
37
Achondroplasia
Dwarfism > shortening of limbs
38
Aniridia
Absence of iris(usually not complete)
39
Polycystic kidney disease | adult-onset, type 3
Numerous cysts in kidneys
40
AUTOSOMAL RECESSIVE
need Two copy to show phenotype
41
examples of autosomal recessive
1. Albinism | 2. Polycystic kidney disease (prenatal type 1)
42
Albinism
Absence of pigmentation
43
Polycystic kidney disease (prenatal type 1)
Numerous cysts in the kidneys
44
X-LINKED RECESSIVE
males are more susceptible
45
examples of X-LINKED RECESSIVE
1. Hemophilia | 2. Hydrocephalus
46
Hemophilia
Defective blood clotting
47
Hydrocephalus
Enlargement of cranium
48
Rubellavirus (fetal)
Disease: German measles Congenital defects: Cataracts, deafness, CVS defects, growth retardation
49
Cytomegalovirus
Disease: Cytomegalic inclusion Congenital defects: Cephalic deformities, intrauterine growth retardation
50
SPIROCHETES: Teponema pallidum
Disease: Syphilis Congenital defects: Dental anomalies, deafness, mental retardation, skin & bone lesions, meningitis
51
PROTOZOA: Toxoplasma gondi
disease: Toxoplasmosis Congenital defects: Cephalic deformities, mental retardation, prematurity
52
Hyperthermia (High temperature)
Anencephaly, spina bifida, intellectual disability
53
Ionizing radiation
Microcephaly(small head), spina bifida (failure to close the caudal pore), cleft palate, limb defects
54
Alcohol
Growth & mental retardation, facial & trunk malformations
55
Anticoagulants
Skeletal abnormalities, nasal hypoplasia, anomalies of the eyes, neck, CNS
56
Anticonvulsants
Neural tube defects, mental retardation, poor growth, facial defects
57
Antithyroid drugs
Fetal goiter, hypothyroidism
58
Chemo-therapeutic agents
Variety of major anomalies throughout body
59
Industrial solvents
Spontaneous abortion, prematurity, low birth weight, heart, craniofacial, and neural tube defects
60
Lead
Growth retardation, neurological disorders
61
Lithium
Heart anomalies
62
Organic mercury
Mental retardation, cerebral atrophy, spasticity, blindness
63
Retinoic acid
Defects related to derivatives of neural crest
64
Streptomycin
Hearing loss, auditory nerve damage
65
Tetracycline
Hypoplasia and staining of tooth enamel, staining of bones
66
Thalidomide
Limb defects, ear defects, cardiovascular anomalies
67
Valproic acid
Neural tube defects; heart, craniofacial, and limbs
68
Androgen
Masculinization of female genitalia, accelerated genital development in males
69
Diethylstilbestrol
Malformation of the uterus, uterine tubes, and upper vagina; vaginal cancer; malformed testes
70
Maternal diabetes
Various malformations; heart and neural defects most common
71
Maternal obesity
Neural tube defects, heart defects, omphalocoele
72
what are Screening tools?
1. Maternal serum screening-Serum alpha fetoprotein 2. Amniocentesis 3. Chorionic villus
73
Maternal serum screening-Serum alpha fetoprotein
sample of mother blood > indicate | down syndrome
74
Amniocentesis
analyzing sample of ammonia attic fluid
75
Chorionic villus
sampling sample of the chorion (placenta)
76
What is Clubfoot?
* It a disease caused by decrease or absence of amniotic fluid * Structural anomaly
77
What is a teratogen?
• It is an agent that can produce a congenital anomaly or raise the incidence of an anomaly in the population
78
What does Teratogenicity of an agent depend on?
1. critical periods of development 2. the amount of the agent or dose of the drug 3. genetic constitution (genotype) of the embryo

anatomy FB1 (9 decks)

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