Chapter 3 - Structure Abnormalities and Birth Defects Flashcards

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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
Q

Pituitary Dwarfism

A

Due to hypopituitarism

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26
Q

Hyperpituitarism

A

Hypersection of growth hormone

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27
Q

Gigantism

A

In children before closure of the epiphyseal plate

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28
Q

Acromegaly

A

After closure of epiphyseal plate

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29
Q

Digit

A

A finger or a toe

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30
Q

Polydactylisim

A

A condition of having more than the normal number or fingers or toes

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31
Q

Syndactilism

A

The condition of having two or more fused together fingers and toes

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32
Q

Adactylism

A

Absence of fingers and/or toes

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33
Q

Phocomelia

A

Congenital condition in which the limbs are poorly developed or absent

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34
Q

Amelia

A

Congenital absence of one or more limbs

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35
Q

Clubfoot

A

Deformity of foot; overcalcification of bones of the foot; possibly genetic factors or fetal position

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36
Q

Dislocated Hip

A

Abnormality of hip joint; easy fractures due to hip dysplasia

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37
Q

Cleft Palate

A

Two sides of the palate fail to fuse during fetal development; results in opening between palatine bones

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38
Q

Cleft Lip

A

Separation of the two sides of the lip

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39
Q

Tongue Tie

A

Short frenulum under the tongue; restricts tongue motion

40
Q

Cyst

A

Closed sac in or under the skin containing fluid or semisolid mass

41
Q

Fistula

A

Abnormal passage from internal organ to body surface or between two internal organs

42
Q

Cystic Fibrosis

A

Fatal genetic disease due to defect transport of chloride

43
Q

Deaf Mutism

A

Congenital deafness that results in inability to speak

44
Q

Color Blindness

A

Abscence of or defect in the perception of color

45
Q

Heterochromia

A

Eyes of different colors due to excess or lack of pigment within an iris

46
Q

Myopia

A

Nearsightedness

47
Q

Hyperopia

A

Farsightedness

48
Q

Cataract

A

Clouded lens usually due to infection in utero

49
Q

Freckles

A

Area of excess melanin; usually more prominent when exposed to light

50
Q

Vascular nevus

A

Strawberry mark congenital vascular tumor; usually on face, head, arms, neck

51
Q

Ichthyosis

A

Fish scale appearance with thickened overlapping fish scales

52
Q

Hypertrichosis

A

Excessive growth of terminal hair in areas not normally there; usually due to drugs

Also less than normal amounts of hair

53
Q

Polythelia

A

Accessory nipples on the breast or elsewhere, cause unknown

54
Q

Polymastia

A

More than two breasts are present

55
Q

Amastia

A

Absence of breasts

56
Q

Cranioschisis

A

Failure of the skull bones to close

57
Q

Microcephaly

A

Abnormally small head and brain

58
Q

Anencephaly

A

Without a brain - Congenital absence of the brain

59
Q

Hydrocephalus

A

Abnormal accumulation of cerebrospinal fluid in the ventricles of the brain; results in swelling of the brain

60
Q

Spina Bifida

A

Neural tube defect, one or more vertebrae fail to fuse (Usually in the lumbar area)

61
Q

Tetralogy of Fallot

A

Four related defects of the heart and aorta

62
Q

The Four Tetralogy of Fallot Problems

A
  1. Narrowing of the Pulmonary valve
  2. Thickening of the right ventricular wall
  3. Displacement of the aorta
  4. Ventricular septal defect
63
Q

Acardia

A

No heart forms

64
Q

Ectopia Cordis

A

Malposition of the heart projects outside the ribcage

65
Q

Dextrocardia

A

Heart is on the right side of the chest

66
Q

Hypoplasia

A

Underdevelopment of the tissue, or organ of the body

67
Q

Aplasia

A

Failure of tissue or organ to develop normally

68
Q

Bicornate Uterus

A

Two horns to the uterus

69
Q

Hermaphrodism

A

Containing both ovaries and testes

70
Q

Atresia

A

Congenital absence or closure of normal body opening

71
Q

Stenosis

A

Narrowing of a passage

72
Q

Hypospadia

A

In male bladder drops and urethra opens at the back of the penis

73
Q

Bacterial Colony

A

A visible group of bacteria growing on a solid medium presumably arising from a single organism

74
Q

Bactericide

A

An agent that destroys bacteria but not necessarily their spores

75
Q

Bacteriology

A

Science that studies bacteria

76
Q

Bilirubin

A

The red pigment in bile

77
Q

Biliverdin

A

The green pigment in bile

78
Q

What does Bio mean?

A

Means life

79
Q

Biological Vector

A

An arthropod vector in which the disease-causing organism develops within the arthropod prior to becoming infective for a susceptible individual

80
Q

Brain Purge

A

Pre-Embalming purge as a result of a fracture of the skull, a surgical procedure in the cranial cavity

81
Q

Cachexia

A

Severe form of malnutrition

82
Q

Carbuncle

A

Several communicating boils of the skin and subcutaneous tissues with production and discharge of pus and dead tissue

83
Q

Carcinoma

A

Malignant tumor

84
Q

Capsule

A

The membrane that surrounds some bacterial cells

85
Q

Cavitation

A

Formation of cavities in an organ or tissue; frequently seen in some forms of tuberculosis

86
Q

Cele

A

Means a protrusion

87
Q

Cellular Degeneration

A

The deterioration of an organ or cell structure which may cause swelling

88
Q

Cellular Infiltration

A

A cellular reaction to injury which may include pigmentation, calcification and gout

89
Q

Centesis

A

Means perforating

90
Q

Cerebral Vascular Accident

A

A blow; hence a sudden attack as a sunstroke, a paralytic or apoplectic stroke or apoplexy

91
Q

Chancre

A

Primary lesion, initial sclerosis, syphilitic sore

92
Q

Chlamydia

A

A large group of nonmotile, gram negative intracellular parasite

93
Q

Chol

A

PREFIX for bile

94
Q

Chole

A

SUFFIX for bile

95
Q

Cholecystitis

A

Inflammation of the gallbladder

96
Q

How many chromosomes do the Ovum and the Sperm split in half??

A

46