Chapter 3 - Structure Abnormalities and Birth Defects Flashcards

1
Q

Congenital Anomaly

A

Structural or functional abnormality in development present at birth

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2
Q

Malformation

A

Irregular, anomalous, abnormal. or faulty formation or structure

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3
Q

Deformation

A

Resulting from maternal mechanical factors

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4
Q

Congenital Malformation

A

Resulting from abnormal embryonic development, usually genetic

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5
Q

Causes of Abnormalities

A
  1. Chromosomal
  2. Congenital disorders
  3. Birth Trauma
  4. Specific birth defects
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6
Q

How do hereditary factors received from ancestors pass to?

A

Offspring

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7
Q

How many chromosomes does the normal human have?

A

46

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8
Q

How are somatic cells reproduced?

A

By Mitosis

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9
Q

How are Germ cells reproduced?

A

By Meiosis

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10
Q

The usual Male karyotype?

A

46,XX

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11
Q

Usual Female karyotype

A

46,XY

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12
Q

Chromosomal Abnormalities

A

Too few sex chromosomes

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13
Q

Turners Syndrome and the symptoms of it

A

Too many sex chromosomes; 45XO
Short Broad underdeveloped breasts
Infertile

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14
Q

Klinefelters Syndrome and symptoms of it

A

Too many autosomal chromosomes; 47XXY

Usually sterile

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15
Q

Downs Syndrome

A

Trisomy 21 = Three copies of chromosome 21

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16
Q

Edwards Syndrome

A

Trisomy 18 = Three copies of chromosome 18

Usually fatal within 3 months

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17
Q

Patau Syndrome

A

Trisomy 13 = Three copies of chromosome 13

Physical abnormalities

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18
Q

Teratogen

A

Anything that adversely affects normal cellular development in the embryo or fetus.

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19
Q

Fetal alcohol/ Fetal Narcotic Syndrome

A

Present in infants born to mother who consumed alcohol or narcotics during the pregnancy

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20
Q

Torch

A

Group of infections acquired by woman during pregnancy and transmitted to the child in the womb

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21
Q

Torch Teratogens List (ToRCH)

A
  1. Toxoplasmosis
  2. Rubella
  3. Cytomegalovirus
  4. Herpes Virus
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22
Q

Congenital Rubella Syndrome

A

Rubella virus crosses the placenta to fetus; causes microcephaly. learning disorder, deafness, heart defects

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23
Q

Monsters

A

Grossly deformed fetus

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24
Q

Achondroplasia (hereditary Dwarfism)

A

Abnormal development of epiphyseal cartilage

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25
Pituitary Dwarfism
Due to hypopituitarism
26
Hyperpituitarism
Hypersection of growth hormone
27
Gigantism
In children before closure of the epiphyseal plate
28
Acromegaly
After closure of epiphyseal plate
29
Digit
A finger or a toe
30
Polydactylisim
A condition of having more than the normal number or fingers or toes
31
Syndactilism
The condition of having two or more fused together fingers and toes
32
Adactylism
Absence of fingers and/or toes
33
Phocomelia
Congenital condition in which the limbs are poorly developed or absent
34
Amelia
Congenital absence of one or more limbs
35
Clubfoot
Deformity of foot; overcalcification of bones of the foot; possibly genetic factors or fetal position
36
Dislocated Hip
Abnormality of hip joint; easy fractures due to hip dysplasia
37
Cleft Palate
Two sides of the palate fail to fuse during fetal development; results in opening between palatine bones
38
Cleft Lip
Separation of the two sides of the lip
39
Tongue Tie
Short frenulum under the tongue; restricts tongue motion
40
Cyst
Closed sac in or under the skin containing fluid or semisolid mass
41
Fistula
Abnormal passage from internal organ to body surface or between two internal organs
42
Cystic Fibrosis
Fatal genetic disease due to defect transport of chloride
43
Deaf Mutism
Congenital deafness that results in inability to speak
44
Color Blindness
Abscence of or defect in the perception of color
45
Heterochromia
Eyes of different colors due to excess or lack of pigment within an iris
46
Myopia
Nearsightedness
47
Hyperopia
Farsightedness
48
Cataract
Clouded lens usually due to infection in utero
49
Freckles
Area of excess melanin; usually more prominent when exposed to light
50
Vascular nevus
Strawberry mark congenital vascular tumor; usually on face, head, arms, neck
51
Ichthyosis
Fish scale appearance with thickened overlapping fish scales
52
Hypertrichosis
Excessive growth of terminal hair in areas not normally there; usually due to drugs Also less than normal amounts of hair
53
Polythelia
Accessory nipples on the breast or elsewhere, cause unknown
54
Polymastia
More than two breasts are present
55
Amastia
Absence of breasts
56
Cranioschisis
Failure of the skull bones to close
57
Microcephaly
Abnormally small head and brain
58
Anencephaly
Without a brain - Congenital absence of the brain
59
Hydrocephalus
Abnormal accumulation of cerebrospinal fluid in the ventricles of the brain; results in swelling of the brain
60
Spina Bifida
Neural tube defect, one or more vertebrae fail to fuse (Usually in the lumbar area)
61
Tetralogy of Fallot
Four related defects of the heart and aorta
62
The Four Tetralogy of Fallot Problems
1. Narrowing of the Pulmonary valve 2. Thickening of the right ventricular wall 3. Displacement of the aorta 4. Ventricular septal defect
63
Acardia
No heart forms
64
Ectopia Cordis
Malposition of the heart projects outside the ribcage
65
Dextrocardia
Heart is on the right side of the chest
66
Hypoplasia
Underdevelopment of the tissue, or organ of the body
67
Aplasia
Failure of tissue or organ to develop normally
68
Bicornate Uterus
Two horns to the uterus
69
Hermaphrodism
Containing both ovaries and testes
70
Atresia
Congenital absence or closure of normal body opening
71
Stenosis
Narrowing of a passage
72
Hypospadia
In male bladder drops and urethra opens at the back of the penis
73
Bacterial Colony
A visible group of bacteria growing on a solid medium presumably arising from a single organism
74
Bactericide
An agent that destroys bacteria but not necessarily their spores
75
Bacteriology
Science that studies bacteria
76
Bilirubin
The red pigment in bile
77
Biliverdin
The green pigment in bile
78
What does Bio mean?
Means life
79
Biological Vector
An arthropod vector in which the disease-causing organism develops within the arthropod prior to becoming infective for a susceptible individual
80
Brain Purge
Pre-Embalming purge as a result of a fracture of the skull, a surgical procedure in the cranial cavity
81
Cachexia
Severe form of malnutrition
82
Carbuncle
Several communicating boils of the skin and subcutaneous tissues with production and discharge of pus and dead tissue
83
Carcinoma
Malignant tumor
84
Capsule
The membrane that surrounds some bacterial cells
85
Cavitation
Formation of cavities in an organ or tissue; frequently seen in some forms of tuberculosis
86
Cele
Means a protrusion
87
Cellular Degeneration
The deterioration of an organ or cell structure which may cause swelling
88
Cellular Infiltration
A cellular reaction to injury which may include pigmentation, calcification and gout
89
Centesis
Means perforating
90
Cerebral Vascular Accident
A blow; hence a sudden attack as a sunstroke, a paralytic or apoplectic stroke or apoplexy
91
Chancre
Primary lesion, initial sclerosis, syphilitic sore
92
Chlamydia
A large group of nonmotile, gram negative intracellular parasite
93
Chol
PREFIX for bile
94
Chole
SUFFIX for bile
95
Cholecystitis
Inflammation of the gallbladder
96
How many chromosomes do the Ovum and the Sperm split in half??
46