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Name the genetic diseases that are autosomal dominant.
- Tumors: Neurofibromatosis, MEN I & II, Famlilial Polyposis Coli, Tuberous Sclerosis.
- Poor Material: Achondroplasia, Marfans, Polycystic Kidney Disease, Myotonic Dystrophy
- Blood: von Willebrands, Familial Hypercholesterolemia, Spherocytosis
- CNS: Huntington Disease
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Which genetic diseases are autosomal recessive?
- Metabolics: Sphingolipidoses, Mucopolysaccharidoses, Glycogen storage diseases, Galactosemia, Amino acid disorders
- Deposition: Wilsons, Hemochromatosis
- Kidneys: Childrens Polycystic Kidney Disease, Adrenogenital syndrome
- CF
- Sickle cell disease
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Genetic diseases that are x-linked?
- Blood: hemophilia, G6P deficiency, Brutons agammaglobulinemia, Wiskott-Aldrich syn
- Metabolic: Fabry's, Hunter's, Lesch-Nyhan syn
- Muscular Dystrophy
- Fragile X
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Infant with hypotonia, VSD, palmer creases, characteristic facies
Downs (Trisomy 21)
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Co-morbidities of Downs syndrome?
- ALL
- GI issues: Duodenal Atresia, Hirschsprung's, Celiac, GERD, etc)
- Alzheimers
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Female infant with small head, retardation, hypoplastic mandible, low set ears, clenched fist with index finger overlapping third and fourth fingers.
Edwards Syndrome (Trisomy 18)
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Infant with mental retardation, apnea, deafness, holoprosencephaly, myelomeningocele, cardio abnormalities, rocker bottom feet.
Patau's (trisomy 13)
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Infant with lymphedema of neck at birth, shsort stature, webbed neck, widely spaced nipples, amenorrhea, lack of breasts; possibly has coarctation of the aorta, horshoe kidneys or benign neck mass.
Turner's Syndrome (XO)
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Tall patient with gynecomastia, sterility, microtestes, mild retardation
Klinefelter Syndrome (XXY)
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Infant with high pitched cry, small head, low birth weight, and severe mental retardation
Cri-du-chat (deletion of short arm of chromosome 5)
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Child with overeating , obesity, decreased muscle tone, mental retardation, small hands and feet.
Prader-Willi (15q deletion from Papa)
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Puppet-like movements, happy mood, unprovoked laughter, mental retardation, seizures.
Angelman (15q deletion in mom)
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Male pt with prominent jaw, large ears, large testicles, hand/foot abnormalities, mental retardation and hyperactivity
- Fragile X (CGG repeats on X)
- 2nd most common cause of retardation
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Premature infant with IUGR, facial abnormalities, stroke symptoms, and mental retardation. What is the cause?
Cocaine use
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Child with mental retardation, IUGR, sensory and motor neuropathy, facial abnormalities. Cause?
Fetal Alcohol syndrome
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Premature Infant with IUGR, meconium pneumonia, neonatal infections, narcotic withdrawal. Cause?
Opiods
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Infant with IUGR, congenital heart defects, a cleft palate. Cause?
Stimulants
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Infant with renal abnormalities and decreased skull ossification. Cause?
ACE inhibitors
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Infant with CN VIII damage, skeletal abnormalities, and renal defects. Cause?
Aminoglycosides
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Infant with facial abnormalities, IUGR, mental retardation, cardio abnormalities, and neural tube defects. Cause?
Carbamazapine
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Effects of Chemo on fetus?
- fetal demise
- severe IUGR
- anatomic abnormalities (bone, palate, limbs, genitals)
- Mental retardation
- spontaneous abortion
- secondary neoplasms
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Infant with cleft palate, renal defects, and secondary neoplasms? Cause?
Diazepam
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What medication can cause vaginal or cervical cancer in the fetus when she grows up?
DES
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What medication causes cartilage abnormalities?
Flouroquinolones
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What are the fetal risks when the mother uses Heparin?
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What are the fetal effects of phenytoin?
- facial abnormalities
- IUGR
- mental retardation
- cardio abnormalities
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What are the teratogenic effects of retinoids?
- cns abnormalities
- cardio abnormalities
- facial abnormalities
- spontaneous abortion
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What are the effects of Sulfonamides on a fetus?
Kernicterus
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What are the effects of valproate on a fetus?
- Neural tube defects
- Facial abnormalities
- CV abnormalities
- skeletal abnormalities
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What are the effects of warfarin on a fetus?
- abortion
- IUGR
- CNS
- facial abnormalities
- mental retardation
- Dandy-Walker malformation
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Hydrocephalus, intracranial calcifications, chorioretinities, microcephaly, spontaneous abortion, seizures are signs of what type of congenital infection?
Toxoplasmosis
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Prematurity, encephalitis, pna, IUGR, CNS abnormalities, limb abnormalities, blindness, high risk of neonate death if infection is active are signs of what type of congenital infection?
Varicella-zoster
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Respiratory distress, PNA, Meningitis, and sepsis are signs of what type of congenital infection?
Group B strep
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Spontaneous abortion, neonatal sepsis, conjunctivitis are signs of what type of congenital infection?
Chlamydia / Ghonorrhea
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Spontaneous abortion, skin lesions (blue berry muffin baby), IUGR, deafness, CV vision or CNS abnormalities, hepatitis are signs of what type of congenital infection?
Rubella
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Prematurity, IUGR, spontaneous abortion, high risk of neonatal death are signs of what type of congenital infection?
Rubeola
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IUGR, chorioretinitis, CNS abnormalities, mental retardation, vision abnormalities, deafness, hydrocephalus, seizures, hepatosplenomegaly are signs of what type of congenital infection?
CMV
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Prematurity, IUGR, spontaneous abortion, neonatal death or CNS abnormalities are signs of what type of congenital infection?
HSV
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Neonatal anemia, deafness, hepatosplenomegaly, pna, hepatitis, osteodystrophy, 25% neonatal mortality are signs of what type of congenital infection?
Syphilis
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Rx for toxoplasmosis infection of fetus?
- Pyrimethamine
- Sulfadiazine, and
- Folinic acid
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Rx for varicella zoster fetus infection/exposure?
- immune globulin if mother nonimmune or to baby if born during active infection
- DO NOT GIVE VACCINE DURING PREGNANCY
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Rx for Group B strep infected fetus or neonate?
IV B-lactams or clindamycin
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Rx for Gonorrhea/Chlamydia infected fetus?
Erythromycin
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Rx for fetus infected with Rubella?
Nothing
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Rx for rubeola infected fetus?
- Immune globulin to mom
- DO NOT GIVE VACCINE
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Rx for CMV infection in fetus/neonate?
- Fetus: nothing
- Neonate: Gancyclovir
- Good Hygene can prevent
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Rx for fetal / neonate infection of Hep B?
- vaccinate mom
- vaccinate neonate and immunglobulin
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