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Pathology > Unit 3 : Birth Defects > Flashcards

Unit 3 : Birth Defects Flashcards

0
Q

Malformation

A

irregular, anomalous, abnormal, or faulty formation or structure

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1
Q

Birth defect

A

a structural or functional abnormality in development present at birth

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2
Q

Malformation is caused by

A
  • Chromosomal abnormalities
  • Congenital disorders
  • Birth trauma
  • Specific birth defects
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3
Q

Chromosomes

A

Hereditary factors received from ancestors passed genetically to offspring

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4
Q

autosomal chromosomes

A

determine body functions & appearance, e.g., eye or hair color

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5
Q

sex chromosomes

A

determine the sex of the individual

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6
Q

Females

A

Have XX chromosomes

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7
Q

Males

A

Have XY chromosomes

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8
Q

somatic (body) cells

A

have 46 chromosomes; reproduce by mitosis; divide into identical daughter cells each with 46 chromosomes

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9
Q

Germ (sex) cells

A

have 46 chromosomes; reproduce by meiosis, result in gametes

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10
Q

Turner ‘s syndrome (45X)

A

lacking X chromosome (44 autosomes + single X-chromosome) clinically a female

–short, broad chest underdeveloped breasts, cardiac malformations, ovaries, uterus
–sexually immature, infertile (no menstruation)
–mental retardation is common (with hormone replacement – normal intelligence & life)

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11
Q

Klinefelter’s syndrome (47XXY)

A

2X + 1Y chromosome, clinically a male;
–usually sterile
–underdeveloped prostate, testes, no facial hair, enlarged breasts
–large hands & feet, long arms & legs

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12
Q

Down’s syndrome

A

–trisomy 21 = three copies of chromosome 21
–1 in 1,500 births (women under 30); 1 in 25 (women 45 and older)
–mental retardation, short & curved 5th finger,
–characteristic facial appearance - flat nasal bridge, low-set ears, slanted eyes,
–heart defects

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13
Q

Edward’s syndrome

A

–trisomy 18 - three copies of chromosome 18
–usually fatal within 3 months due to multiple congenital defects
–cleft lip & palate
–severe mental & motor retardation

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14
Q

Patau syndrome

A

–trisomy 13 - three copies of chromosome 13
–physical abnormalities: microcephaly, polydactyly, syndactyly, heart defects
–generally death in infancy

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15
Q

monosomy

A

too few sex chromosomes

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16
Q

trisomy

A

too many sex chromosomes

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17
Q

too many sex chromosomes

A

Klinefelter’s syndrome

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18
Q

Congenital deformation

A

resulting from maternal mechanical factors

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19
Q

Congenital malformation

A

resulting from abnormal embryologic development, usually genetic

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20
Q

Teratogen

A

anything that adversely affects normal cellular development in the embryo or fetus, can damage fetal or ovarian DNA inducing congenital fetal malformation , e.g.,
•infectious agents, chemicals or ionizing radiation

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21
Q

Chemicals

A

Medications, narcotics, alcohol

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22
Q

Fetal alcohol/ fetal narcotic syndrome

A

group of symptoms & birth defects in infant born to mother who consumed alcohol/narcotics during pregnancy;

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23
Q

Fetal alcohol/fetal narcotic syndrome is characterized by…

A

mental challenges, decreased physical development, hyperactivity, microcephaly (small brain)

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24
Q

TORCH

A

group of infections acquired by woman during pregnancy & transmitted to the child in the womb

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25
Q

TORCH teratogens include:

A

–toxoplasmosis
–rubella (German measles)
–cytomegalovirus (CMV)
–herpes virus

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26
Q

exposure to any TORCH Teratogens during weeks ____-___ of pregnancy may result in the baby’s death or serious complications

A

3-9

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27
Q

Congenital rubella syndrome

A

rubella virus crosses the placenta to fetus; causes microcephaly, learning disorders, deafness, heart defects

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28
Q

Congenital Disorders: Etiology

A
  • Chemicals
  • Infection
  • Radiation
  • Nutritional Deficiencies
  • Conditions of the Mother
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29
Q

Conditions of the mother that cause Congenital Disorders

A
  • age (risk of Down’s Syndrome)
  • fluid retention & poor diet
  • hormonal imbalances
  • physical injury
  • maternal radiation
  • infection
  • metabolic disorders, drugs & medications
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30
Q

Birth Trauma

A

physical or psychological injury sustained by an infant or mother before, during or after birth

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31
Q

Examples of Birth Trauma

A
  • infections (gonorrhea, herpes in the birth canal)
  • trauma
  • lack of oxygen
  • umbilical cord strangulation
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32
Q

Examples of Monsters or grossly deformed fetus

A

joined twins, parasitized fetus

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33
Q

Achondroplasia (Dwarfism)

A

abnormal development of epiphyseal cartilage

–rare genetic disorder
–short stature, disproportionately short arms & legs
– large head & characteristic facial features

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34
Q

__% of Dwarfs have two parents of average height

A

80

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35
Q

Pituitary dwarfism

A

–caused by hypopituitarism
– hyposecretion of growth hormone
–grow up to 4’ tall, normal body proportions
–normal intelligence

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36
Q

Hyperpituitarism

A

hypersecretion of growth hormone

•enlarged bones of skull, arms & legs

37
Q

Gigantism

A

in children
•up to 8’ tall, normal body proportions
•slower sexual development
•mental development normal or retarded

38
Q

Acromegaly

A

in adults
•thickening of soft tissue - enlarged lips, nose, tongue, thicker skin
•may lead to congestive heart failure, respiratory or cerebrovascular problems

39
Q

Polydactylism

A

genetic defect; forming more than five fingers on hands and/or feet

40
Q

Syndactylism

A

two or more fused fingers or toes

41
Q

Adactylism

A

absence of fingers and/or toes

42
Q

Phocomelia

A

congenital condition
–proximal portions of the limbs are poorly developed or absent
–hands and/or feet are attached to the trunk directly

43
Q

Amelia

A

congenital absence of one or more limbs

44
Q

Clubfoot

A

deformity of foot (bent inward); overcalcification of bones of the foot; possibly genetic factors or fetal position;

45
Q

Dislocated hip

A

abnormality of hip joint; easy fractures due to hip dysplasia; caused by improper fetal or during birth position or maternal hormones; difference in leg length or asymmetrical folds on the affected thigh

46
Q

Cleft palate or lip

A

incomplete joining or overlapping palate

–malformed palate with fissure (opening) along the midline

47
Q

Tongue tie

A

short frenulum under the tongue

–cause restriction of tongue motion, speech difficulty

48
Q

cyst

A

closed sac in or under the skin containing fluid or semi-solid mass

49
Q

Fistula

A

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

50
Q

Tracheo–esophageal fistula

A

connection between esophagus and trachea–life threatening

51
Q

Deaf mutism

A

congenital deafness that results in inability to speak

52
Q

color blindness

A

absence of or defect in the perception of colors, sex-linked recessive trait, usually in males (red-green)

53
Q

Heterochromia

A

eyes of different colors

– excess or lack of pigment within an iris; sex-linked

54
Q

Myopia

A

nearsightedness
–longer eyeball
–distant objects appear blurred

55
Q

Hyperopia

A

farsightedness
–shorter eyeball
–near objects appear blurred

56
Q

cataract

A

clouded lens usually due to infection in utero

57
Q

Freckles

A

Areas of excess melanin. Usually more prominent when exposed to light

58
Q

Vascular nevus (birth mark)

A

Congenital vascular tumor (overgrowth of capillaries) of skin. usually on face or neck

59
Q

Ichthyosis

A

fish scale appearance with thickened overlapping skin layers

60
Q

Hypertrichosis

A

Excessive growth of terminal hair in areas that are not normally hairy.
-usually due to certain drugs (corticosteroids, diazoxide, minoxidil)

61
Q

Hypotrichosis

A

less than normal amount of hair growth on head or body
-due to hereditary hair follicle dysplasia, inflammation or infection of hair follicles, neoplastic destruction, irradiation.

62
Q

Polythelia

A

accessory nipples on the breast or elsewhere, cause unknown

63
Q

Polymastia

A

more than 2 breast are present

64
Q

Amastia

A

Absence of breasts

65
Q

Cranioschisis

A

failure of the skull to close
–no neural groove
–no brain (anencephaly) or spinal cord

66
Q

Microcephaly

A

abnormally small head & brain
–usually mental retardation,
e.g., Down syndrome

67
Q

Anencephaly (without a brain)

A

congenital absence of the brain (defect in development of the brain)
–absence of major portions of the brain (and spinal cord)
–bones in skull fail to develop exposed brain is destroyed in utero
–infant will be stillborn or die shortly after birth

68
Q

Hydrocephalus

A

abnormal accumulation of cerebrospinal fluid in the ventricles of brain
–results in swelling of the brain
–due to injury, infection or disease

69
Q

Spina bifida

A

neural tube defect , one or more vertebrae fail to fuse (usually in lumbar area) leaving opening or weakness in vertebral column
–visible meninges with spinal cord exposed
–possible cyst with spinal fluid exposed
–due to radiation, virus, genetic factors

70
Q

Tetralogy of Fallot

A

syndrome of four related defects of the heart & aorta, most commonly seen with intraventricular septal defect

71
Q

characteristics of Tetralogy of Fallot

A

–Narrowing of the pulmonary valve
–Thickening of the right ventricular wall
–Displacement of the aorta
–Ventricular septal defect

72
Q

Tetralogy of Fallot is caused by..

A

–Fetal alcohol syndrome

–Thalidomide use during pregnancy

73
Q

Acardia

A

No heart forms

74
Q

Ectopia cordis

A

Malposition of the heart; projects outside of ribcage

75
Q

Dextrocardia

A

Heart is on the right side of the chest

76
Q

Hypoplasia

A

underdevelopment of tissue, or organ of the body;
–could be maternal diabetes or alcohol abuse
–e.g., kidneys

77
Q

Aplasia

A

failure of tissue or organ to develop normally. (ex. absence of skin)

78
Q

Bicornuate uterus

A

Two horns to the uterus.

essentially, two uteri.

79
Q

Hermaphrodism

A

Containing both ovaries and testes.

80
Q

Atresia

A

congenital absence of closure or normal body opening, e.g.,
–esophageal atresia (esophagus does not join the stomach)
–rectal atresia,
-laryngeal atresia

81
Q

Stenosis

A

Narrowing of a passage.

82
Q

Laryngeal stenosis

A

Narrowing of larynx with possible blockage

83
Q

Pyloric stenosis

A

Narrowing of pyloric valve; most common in first born males.

84
Q

Hypospadia

A

In males, bladder drops urethra opens at the back of the penis

85
Q

Hematopoietic System

A

blood cell forming & destroying

86
Q

Agammaglobulinemia

A

Little or no antibody production by plasma cells

87
Q

Spherocytosis

A

Hereditary production of enlarged & spherical RBCs which are trapped inside the spleen.

88
Q

Sickle cell anemia

A 
Hereditary disorder (usually in African ancestry population to prevent malaria) 
-risking anemia and blood clots
89
Q

Hemophilia

A

sex-linked recessive disorder, lack of anti-hemophiliac factor; bleeding

Pathology (17 decks)

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