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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
TORCH
group of infections acquired by woman during pregnancy & transmitted to the child in the womb
25
TORCH teratogens include:
–toxoplasmosis –rubella (German measles) –cytomegalovirus (CMV) –herpes virus
26
exposure to any TORCH Teratogens during weeks ____-___ of pregnancy may result in the baby’s death or serious complications
3-9
27
Congenital rubella syndrome
rubella virus crosses the placenta to fetus; causes microcephaly, learning disorders, deafness, heart defects
28
Congenital Disorders: Etiology
- Chemicals - Infection - Radiation - Nutritional Deficiencies - Conditions of the Mother
29
Conditions of the mother that cause Congenital Disorders
- age (risk of Down's Syndrome) - fluid retention & poor diet - hormonal imbalances - physical injury - maternal radiation - infection - metabolic disorders, drugs & medications
30
Birth Trauma
physical or psychological injury sustained by an infant or mother before, during or after birth
31
Examples of Birth Trauma
* infections (gonorrhea, herpes in the birth canal) * trauma * lack of oxygen * umbilical cord strangulation
32
Examples of Monsters or grossly deformed fetus
joined twins, parasitized fetus
33
Achondroplasia (Dwarfism)
abnormal development of epiphyseal cartilage –rare genetic disorder –short stature, disproportionately short arms & legs – large head & characteristic facial features
34
__% of Dwarfs have two parents of average height
80
35
Pituitary dwarfism
–caused by hypopituitarism – hyposecretion of growth hormone –grow up to 4’ tall, normal body proportions –normal intelligence
36
Hyperpituitarism
hypersecretion of growth hormone | •enlarged bones of skull, arms & legs
37
Gigantism
in children •up to 8’ tall, normal body proportions •slower sexual development •mental development normal or retarded
38
Acromegaly
in adults •thickening of soft tissue - enlarged lips, nose, tongue, thicker skin •may lead to congestive heart failure, respiratory or cerebrovascular problems
39
Polydactylism
genetic defect; forming more than five fingers on hands and/or feet
40
Syndactylism
two or more fused fingers or toes
41
Adactylism
absence of fingers and/or toes
42
Phocomelia
congenital condition –proximal portions of the limbs are poorly developed or absent –hands and/or feet are attached to the trunk directly
43
Amelia
congenital absence of one or more limbs
44
Clubfoot
deformity of foot (bent inward); overcalcification of bones of the foot; possibly genetic factors or fetal position;
45
Dislocated hip
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
Cleft palate or lip
incomplete joining or overlapping palate | –malformed palate with fissure (opening) along the midline
47
Tongue tie
short frenulum under the tongue | –cause restriction of tongue motion, speech difficulty
48
cyst
closed sac in or under the skin containing fluid or semi-solid mass
49
Fistula
abnormal passage from internal organ to body surface or between two internal organs
50
Tracheo--esophageal fistula
connection between esophagus and trachea--life threatening
51
Deaf mutism
congenital deafness that results in inability to speak
52
color blindness
absence of or defect in the perception of colors, sex-linked recessive trait, usually in males (red-green)
53
Heterochromia
eyes of different colors | – excess or lack of pigment within an iris; sex-linked
54
Myopia
nearsightedness –longer eyeball –distant objects appear blurred
55
Hyperopia
farsightedness –shorter eyeball –near objects appear blurred
56
cataract
clouded lens usually due to infection in utero
57
Freckles
Areas of excess melanin. Usually more prominent when exposed to light
58
Vascular nevus (birth mark)
Congenital vascular tumor (overgrowth of capillaries) of skin. usually on face or neck
59
Ichthyosis
fish scale appearance with thickened overlapping skin layers
60
Hypertrichosis
Excessive growth of terminal hair in areas that are not normally hairy. -usually due to certain drugs (corticosteroids, diazoxide, minoxidil)
61
Hypotrichosis
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
Polythelia
accessory nipples on the breast or elsewhere, cause unknown
63
Polymastia
more than 2 breast are present
64
Amastia
Absence of breasts
65
Cranioschisis
failure of the skull to close –no neural groove –no brain (anencephaly) or spinal cord
66
Microcephaly
abnormally small head & brain –usually mental retardation, e.g., Down syndrome
67
Anencephaly (without a brain)
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
Hydrocephalus
abnormal accumulation of cerebrospinal fluid in the ventricles of brain –results in swelling of the brain –due to injury, infection or disease
69
Spina bifida
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
Tetralogy of Fallot
syndrome of four related defects of the heart & aorta, most commonly seen with intraventricular septal defect
71
characteristics of Tetralogy of Fallot
–Narrowing of the pulmonary valve –Thickening of the right ventricular wall –Displacement of the aorta –Ventricular septal defect
72
Tetralogy of Fallot is caused by..
–Fetal alcohol syndrome | –Thalidomide use during pregnancy
73
Acardia
No heart forms
74
Ectopia cordis
Malposition of the heart; projects outside of ribcage
75
Dextrocardia
Heart is on the right side of the chest
76
Hypoplasia
underdevelopment of tissue, or organ of the body; –could be maternal diabetes or alcohol abuse –e.g., kidneys
77
Aplasia
failure of tissue or organ to develop normally. (ex. absence of skin)
78
Bicornuate uterus
Two horns to the uterus. | essentially, two uteri.
79
Hermaphrodism
Containing both ovaries and testes.
80
Atresia
congenital absence of closure or normal body opening, e.g., –esophageal atresia (esophagus does not join the stomach) –rectal atresia, -laryngeal atresia
81
Stenosis
Narrowing of a passage.
82
Laryngeal stenosis
Narrowing of larynx with possible blockage
83
Pyloric stenosis
Narrowing of pyloric valve; most common in first born males.
84
Hypospadia
In males, bladder drops urethra opens at the back of the penis
85
Hematopoietic System
blood cell forming & destroying
86
Agammaglobulinemia
Little or no antibody production by plasma cells
87
Spherocytosis
Hereditary production of enlarged & spherical RBCs which are trapped inside the spleen.
88
Sickle cell anemia
``` Hereditary disorder (usually in African ancestry population to prevent malaria) -risking anemia and blood clots ```
89
Hemophilia
sex-linked recessive disorder, lack of anti-hemophiliac factor; bleeding

Pathology (17 decks)

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