Chapter 3 - Structure Abnormalities and Birth Defects Flashcards
Congenital Anomaly
Structural or functional abnormality in development present at birth
Malformation
Irregular, anomalous, abnormal. or faulty formation or structure
Deformation
Resulting from maternal mechanical factors
Congenital Malformation
Resulting from abnormal embryonic development, usually genetic
Causes of Abnormalities
- Chromosomal
- Congenital disorders
- Birth Trauma
- Specific birth defects
How do hereditary factors received from ancestors pass to?
Offspring
How many chromosomes does the normal human have?
46
How are somatic cells reproduced?
By Mitosis
How are Germ cells reproduced?
By Meiosis
The usual Male karyotype?
46,XX
Usual Female karyotype
46,XY
Chromosomal Abnormalities
Too few sex chromosomes
Turners Syndrome and the symptoms of it
Too many sex chromosomes; 45XO
Short Broad underdeveloped breasts
Infertile
Klinefelters Syndrome and symptoms of it
Too many autosomal chromosomes; 47XXY
Usually sterile
Downs Syndrome
Trisomy 21 = Three copies of chromosome 21
Edwards Syndrome
Trisomy 18 = Three copies of chromosome 18
Usually fatal within 3 months
Patau Syndrome
Trisomy 13 = Three copies of chromosome 13
Physical abnormalities
Teratogen
Anything that adversely affects normal cellular development in the embryo or fetus.
Fetal alcohol/ Fetal Narcotic Syndrome
Present in infants born to mother who consumed alcohol or narcotics during the pregnancy
Torch
Group of infections acquired by woman during pregnancy and transmitted to the child in the womb
Torch Teratogens List (ToRCH)
- Toxoplasmosis
- Rubella
- Cytomegalovirus
- Herpes Virus
Congenital Rubella Syndrome
Rubella virus crosses the placenta to fetus; causes microcephaly. learning disorder, deafness, heart defects
Monsters
Grossly deformed fetus
Achondroplasia (hereditary Dwarfism)
Abnormal development of epiphyseal cartilage
Pituitary Dwarfism
Due to hypopituitarism
Hyperpituitarism
Hypersection of growth hormone
Gigantism
In children before closure of the epiphyseal plate
Acromegaly
After closure of epiphyseal plate
Digit
A finger or a toe
Polydactylisim
A condition of having more than the normal number or fingers or toes
Syndactilism
The condition of having two or more fused together fingers and toes
Adactylism
Absence of fingers and/or toes
Phocomelia
Congenital condition in which the limbs are poorly developed or absent
Amelia
Congenital absence of one or more limbs
Clubfoot
Deformity of foot; overcalcification of bones of the foot; possibly genetic factors or fetal position
Dislocated Hip
Abnormality of hip joint; easy fractures due to hip dysplasia
Cleft Palate
Two sides of the palate fail to fuse during fetal development; results in opening between palatine bones
Cleft Lip
Separation of the two sides of the lip
Tongue Tie
Short frenulum under the tongue; restricts tongue motion
Cyst
Closed sac in or under the skin containing fluid or semisolid mass
Fistula
Abnormal passage from internal organ to body surface or between two internal organs
Cystic Fibrosis
Fatal genetic disease due to defect transport of chloride
Deaf Mutism
Congenital deafness that results in inability to speak
Color Blindness
Abscence of or defect in the perception of color
Heterochromia
Eyes of different colors due to excess or lack of pigment within an iris
Myopia
Nearsightedness
Hyperopia
Farsightedness
Cataract
Clouded lens usually due to infection in utero
Freckles
Area of excess melanin; usually more prominent when exposed to light
Vascular nevus
Strawberry mark congenital vascular tumor; usually on face, head, arms, neck
Ichthyosis
Fish scale appearance with thickened overlapping fish scales
Hypertrichosis
Excessive growth of terminal hair in areas not normally there; usually due to drugs
Also less than normal amounts of hair
Polythelia
Accessory nipples on the breast or elsewhere, cause unknown
Polymastia
More than two breasts are present
Amastia
Absence of breasts
Cranioschisis
Failure of the skull bones to close
Microcephaly
Abnormally small head and brain
Anencephaly
Without a brain - Congenital absence of the brain
Hydrocephalus
Abnormal accumulation of cerebrospinal fluid in the ventricles of the brain; results in swelling of the brain
Spina Bifida
Neural tube defect, one or more vertebrae fail to fuse (Usually in the lumbar area)
Tetralogy of Fallot
Four related defects of the heart and aorta
The Four Tetralogy of Fallot Problems
- Narrowing of the Pulmonary valve
- Thickening of the right ventricular wall
- Displacement of the aorta
- Ventricular septal defect
Acardia
No heart forms
Ectopia Cordis
Malposition of the heart projects outside the ribcage
Dextrocardia
Heart is on the right side of the chest
Hypoplasia
Underdevelopment of the tissue, or organ of the body
Aplasia
Failure of tissue or organ to develop normally
Bicornate Uterus
Two horns to the uterus
Hermaphrodism
Containing both ovaries and testes
Atresia
Congenital absence or closure of normal body opening
Stenosis
Narrowing of a passage
Hypospadia
In male bladder drops and urethra opens at the back of the penis
Bacterial Colony
A visible group of bacteria growing on a solid medium presumably arising from a single organism
Bactericide
An agent that destroys bacteria but not necessarily their spores
Bacteriology
Science that studies bacteria
Bilirubin
The red pigment in bile
Biliverdin
The green pigment in bile
What does Bio mean?
Means life
Biological Vector
An arthropod vector in which the disease-causing organism develops within the arthropod prior to becoming infective for a susceptible individual
Brain Purge
Pre-Embalming purge as a result of a fracture of the skull, a surgical procedure in the cranial cavity
Cachexia
Severe form of malnutrition
Carbuncle
Several communicating boils of the skin and subcutaneous tissues with production and discharge of pus and dead tissue
Carcinoma
Malignant tumor
Capsule
The membrane that surrounds some bacterial cells
Cavitation
Formation of cavities in an organ or tissue; frequently seen in some forms of tuberculosis
Cele
Means a protrusion
Cellular Degeneration
The deterioration of an organ or cell structure which may cause swelling
Cellular Infiltration
A cellular reaction to injury which may include pigmentation, calcification and gout
Centesis
Means perforating
Cerebral Vascular Accident
A blow; hence a sudden attack as a sunstroke, a paralytic or apoplectic stroke or apoplexy
Chancre
Primary lesion, initial sclerosis, syphilitic sore
Chlamydia
A large group of nonmotile, gram negative intracellular parasite
Chol
PREFIX for bile
Chole
SUFFIX for bile
Cholecystitis
Inflammation of the gallbladder
How many chromosomes do the Ovum and the Sperm split in half??
46
