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