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Embryology Human Defects
Embryology Human Defects
38
Science
Undergraduate 4
04/19/2009

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Term
What are the 3 factors that cause birth defects
Definition
environmental, gentic factors, combination of both
Term
Aplasia
Definition
absence of an organ or body region resulting from failure of development of its precursor.
Term
Agenesis
Definition
absence of an organ or body region resulting from the absence of its precursor
Term
Deformations
Definition
anomalies in form, shape, or position of an organ or body region caused by an extrinsic mechanical factor.
Term
Disruptions
Definition
defects in development of an organ or body region resulting from a disruption of an originally normal developmental process of its precursor
Term
Malformation
Definition
defects in development of an organ or body region resulting from an abnormality in the developmental potential of its precursor.
Term
Numerical chromosomal abnormalities
Definition
Trisomy 21, 18, 13
Term
What are the symptoms of Trisomy 21 and what is the name?
Definition
mental retardation, congenital heart defects, microcephaly, microphtalmia, colobomata, cataracts, glaucoma, umbilical hernia and duodenal atresia.
Term
What are the signs and symptoms of Edward's Syndrome?
Definition
much less common than trixomy 21. usually die son after birth. Flexed digits, mental retardation, congentical heart defects, prominent occiput, low set ears, flexed digits, and rocker-bottom feet.
Term
What are the signs and symptoms of Trisomy 13?
Definition
Patau syndrome. mental retardation, microphthalmia, congenital heart defects, deafness, colobomata, and left lip and cleft palate.
Term
Klinefelter Syndrome
Definition
XXY. characterized by male hypogonadism, sterility, and gynocomastia.
Term
Truner syndrome
Definition
XO, female hypogonadism. Infantile genitalia, hypoplastic ovaries, congenital heart defects, webbed neck; lymphedema of extremities. most common cause of primary amenorrhea.
Term
Triple X syndrome
Definition
characterized by presence of two sex chromatin bodies. normal in habitus and are usally fertile; 20% mildly retarded.
Term
Cri-du-chat syndrome
Definition
results from deletion of teh short arm of chromosome 5. Cat like cry, mental retardation, microcephaly. Low birth weight, microcephaly, feeding difficulties, language difficulties, hypotonia.
Term
Prader-Willi Syndrome
Definition
associated with deletion of bandq12 on crhomosome 15(. hypogonadism, hyperphagia, mental retardation.
Term
Angelmann Syndrome
Definition
associated with deletion of band q12 on chromosome 15 (found in mother). mental retardation, seizures, dystaxia.
Term
Di George Syndrome
Definition
deletion of band q11 on chromosom 22. Absence of the thymus and parathyroid gl. and T-cell immunodeficiency.
Term
Achondroplasia and polydactyly are defects of what?
Definition
A single gene
Term
What can neural tube defects result in?
Definition
Spina bifida, encephalocele, myeloschisis, anencephaly. elvated alpha-fetoprotein levels in maternal serum and amniotic fluid.
Term
Rubella Virus effects on developing embryo or fetus
Definition
Effects of the developing embryo or fetus; heart defects, cataracts deafness mental retardation microcephaly blindness.
Term
What does thalidomide do?
Definition
Harms baby, and is antinauseant
Term
Antimetabolites do what?
Definition
antineoplastic agents, and a folic acid antagonist.
Term
Methotrexate
Definition
derivative of amniopterin is a folic acid antagonist resulting in skeletal anomalies.
Term
Lithium Carbonate
Definition
For treatment of manic-depressive disorder. congenital anomalies of the heart and great vessels.
Term
Retinoic Acid
Definition
cystic acne. craniofacial anomalies, spina bifida cystica, cardiovascular defects.
Term
Walfarin
Definition
crosses placental barrier, anticoagulatn and a vit. K antagonist that is used to treat thromboembolic disease. mental retardation, microcephaly, optic atrophy
Term
Diazepam
Definition
antianxiety agent. use in first trimester of pregnancy causes craniofacial deformities.
Term
Tetracycline
Definition
cause stained teeth and hypoplasia enamel and reduced growth of long bones.
Term
Streptomycin
Definition
causes sensorineural deafness.
Term
Symptoms of Fetal-Alcohol Syndrome
Definition
mental retardation, microcephaly, craniofacial abnormalities, limb deformities, cardiovascular defects.
Term
Cigarette Smoking
Definition
Cause intrauterine growth retardation, premature delivery, low birth weight, decreases uterine blood flow and diminished capacity of the blood to transport oxygen to fetal tissue.
Term
Caffeine
Definition
not known to be a human teratogen.
Term
Oral Contraceptives
Definition
are teratogenic in pregnant woman. may cause VACTERL syndrome.
Term
Cocaine
Definition
may cause mental retardation, microcephaly, cerebral infarction, urogenital defect.
Term
Ionizing Radiation
Definition
cause structural chromosomal damage. congenital anomalies.
Term
What are 3 conditions that result from failure of the neural crest cell migration?
Definition
Digeorge syndrome, Cardia malformations, Hirschsprung disease.
Term
Digeorge Syndrome
Definition
nongenetic form of T-cell deficiency. results from failure of the neural crest cells to populate pharyngeal pouches 3 and 4 and give rise to the thymus and parathyroid glands. congenital hypothyroidism and facial and cardiac abnormalities.
Term
What is Hirschsprung Disease
Definition
congenital aganglionic megacolon.
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