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41 Cards in this Set
- Front
- Back
Birth Defect
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Congenital (present at birth) abnormality or disorder, may be due to abnormal genetic code or an acquired injury before birth.
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What types of diseases are neurofibromatosis and cystic fibrosis?
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Single gene (monogenic) defects.
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What are polygenic disorders, what are their recurrence risks
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Is a disorder caused by the combined effects of multiple genes and the environment. Recurrence risk is lower than a disease that is purely genetic.
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Preimplantation stage
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First 2 weeks after fertilization. Considered the all or none period; fetus will be healthy or will not take.
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Implantation and organogenisis stage
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Weeks 3-9. Where fetus is most susceptible to teratogens. Malformations result from abnormal development.
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Second and third trimester
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Not very susceptible to major malformations or teratogens because organs have already formed. However can get damage to already formed organs; usually in the form of deformations or disruptions.
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Agenesis
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Complete absence of an organ or its primordium.
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Aplasia
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Absence of organ but persistence of of the primordia or rudementary organ. (ex aplasia of globes)
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Hypoplasia
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Reduced size of an organ due to incomplete development.
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Atresia
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Failure of a lumen to form in organs which should have lumens.
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Dysplasia
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Abnormal cellular organization and the morphological results that follow. (ex renal dysplasia)
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Ectopia
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Organ outside the normal location or cells outside their normal origin.
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Malformation
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Structural defect present at birth due to abnormal development. Can be intrinsic (genetically determined) or extrinsic (teratogen).
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Deformation
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Abnormal form, shape, or position of a body part due to mechanical forces. Arises later in fetal life. Uterine constraints are most common. Recurrence risk is lower than a malformation.
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Disruption
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Destruction of an originally normal body region or organ caused by extrinsic force (ex. amniotic band sequence). No risk of recurrence.
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What are clues to ID amniotic band sequence
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Will see shreds of amnion on fetus. Will also usually be asymmetric.
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Sequence
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Multiple congenital abnormalities that are all secondary effects of a single problem. (ex. potter's sequence)
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Potter's sequence
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When a fetuses kidneys dont develop leading to a lack of urine production and therefore a lack of amniotic fluid (oligohydramnios). This lack of amniotic fluid leads to lung hypoplasia, squished faces known as potter's faces, and clubbed feet.
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Oligohydramnios, what is it and what is are the clinical results
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Not enough amniotic fluid. Nodules on the placenta (amnion nodosum) are a key finding.
Can result in lung hypoplasia, altereed faces, limb positioning defects. |
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Syndrome
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Set of congenital abnormalities with a single cause (FAS, CMV infection, and all trisomys including down syndrome)
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Most common teratogen and most common form of preventable mental retardation
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Alcohol
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Pathology of Down syndrome
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-Flat faces
-Broad nasal bridges -Slanted eyes with epicanthal folds -Brushfield spots on the iris -Transverse palmar creases -Mental retardation -Congenical heart malformations (ASD, VSD, endocardial cushion defects like AV canal) -Have a 10-20x increased risk for acute leukemia -All patients who survive to 40 will have Alzheimers. |
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AV Canal
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Absence of inferior aspect of atrial septum and superior aspect of ventricular septum leading to a connection between atria and ventricles.
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Which maternal infections can be teratogens?
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TORCH;
T - Toxoplasma O - Other (syphilis) R - Rubella C - CMV H - Herpes |
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Teratogenic effect of Rubella
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Risk of transmission is greatest during the first 8 weeks of pregnancy. Can cause abortion or Congenital Rubella Syndrome (CRS):
Petechia, Hepatosplenomegaly, cataracs, chorioretinitis, hearing loss, microencephaly, and congenital heart malformations (Patent Ductus areteriosus, VSD, ASD, tetralogy of fallot). Can possibly lead to diabetes. |
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Tetralogy of Fallot
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Congenitcal heart malformation found in babies with congenital rubella syndrome. Has 3 parts:
1) Ventricular septal defect 2) Aorta dextroposed over the defect 3) Narrowing of pulmonary outflow tract. All these lead to the secondary lesion, Right ventricular hypertrophy. |
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Congenital CMV infection
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Most common fetal viral infection. 95% of cases are asymptomatic. Highest risk is second trimester.
Microencephaly, cerebral periventricular calcification, chorioretinitis, middle ear deafness, anemia. |
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Congenital Syphilis Infection
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Doesnt invade fetus until 5th week:
Large placenta, hepatosplenomegaly, jaundice, anemia, thrombocytopenia, rhinitis (sniffles), rash with blisters on soles of hands and feet, glaucoma, meningitis. If not treated get tardive syphilis resulting in Hutchinson's triad, clutton's joints, saddle nose (no bridge), saber shin (anterior bowing) and mental retardation. |
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Hutchinson's triad
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3 Symptoms of tardive syphilis:
1) Hutchinson's teeth (notched incisors) 2) Interstitial keratitis (inflamed cornea) 3) Deafness |
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Fetal alcohol syndrome
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Most common teratogen and cause of preventable mental retardation:
-Mental retardation -Growth retardation -Microencephaly -Cardiac septal defects -Short palpebral fissures, flat philtrum, thin upper lip, maxillary hypoplasia |
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Anticonvulsants as a teratogen
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Cause growth deficiency, mental retardation, hypertelorism, distal phalangeal hypoplasia and nail hypoplasia.
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Cocaine as a teratogen
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-Prematureity
-Low birth weight -Microencephaly -Retardation -Abortions -SIDS -Intracerebral bleeding |
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Cigarettes as a teratogen
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-Increased risk of abortion
-PreMe -Low birth weights -SIDS |
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Retanoic Acid as a teratogen
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CNS, cardiac, and craniofacial defects including microtia/anotia (small/no ears), conotruncal cardiac defects, and spontaneous abortion.
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Metals as a teratogen
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Lead, cadmium, and Mercury poisoning.
Mercury inhibits migration of neuronal cells and effects brain. Get Cerebral palsy. |
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Thalidomide as a teratogen
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Used as a sleeping pill in Europe, causes shortening/loss of limbs in fetus.
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Ionizing Radiation
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Mental retardation, microencephaly, blindness, skull defects, spinabifida.
Exposed infants have higher rates of leukemia and brain tumors. |
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Maternal conditions which can act as teratogens.
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Diabetes
PKU - If diet not maintained, can lead to mental retardation, microencephaly, congenital heart disease, growth retardation and abortion. |
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Osteogenesis imperfecta
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Auto dominant disorder which causes abnormal type 1 collagen. Cause:
-Bone fractures -Short stature -Deafness -Blue sclera -Type 2 babies die in utero |
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Neurofibromatosis Type 1
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Most common AD train. Caused by mutation of 17q gene which encodes for neurofibromin which negatively regulates p21 ras oncoprotein:
Pathology keys are plexiform neurofibromas, lisch nodules, and six or more cafe au lait spots. Tumors occur more often in these patients as well as skeletal lesions and neurofibrosarcomas. |
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Turner syndrome
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45, X, most are lost early in pregnancy. Can present with:
-Hydrops fetalis (due to lympthatic issues) -Posterior cystic hygroma -Aorrtic coarction -Horseshoe kidney |