1. 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
  2. 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
  3. 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
  4. Infant with hypotonia, VSD, palmer creases, characteristic facies
    Downs (Trisomy 21)
  5. Co-morbidities of Downs syndrome?
    • ALL
    • GI issues: Duodenal Atresia, Hirschsprung's, Celiac, GERD, etc)
    • Alzheimers
  6. 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)
  7. Infant with mental retardation, apnea, deafness, holoprosencephaly, myelomeningocele, cardio abnormalities, rocker bottom feet.
    Patau's (trisomy 13)
  8. 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)
  9. Tall patient with gynecomastia, sterility, microtestes, mild retardation
    Klinefelter Syndrome (XXY)
  10. Infant with high pitched cry, small head, low birth weight, and severe mental retardation
    Cri-du-chat (deletion of short arm of chromosome 5)
  11. Child with overeating , obesity, decreased muscle tone, mental retardation, small hands and feet.
    Prader-Willi (15q deletion from Papa)
  12. Puppet-like movements, happy mood, unprovoked laughter, mental retardation, seizures.
    Angelman (15q deletion in mom)
  13. 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
  14. Premature infant with IUGR, facial abnormalities, stroke symptoms, and mental retardation. What is the cause?
    Cocaine use
  15. Child with mental retardation, IUGR, sensory and motor neuropathy, facial abnormalities. Cause?
    Fetal Alcohol syndrome
  16. Premature Infant with IUGR, meconium pneumonia, neonatal infections, narcotic withdrawal. Cause?
  17. Infant with IUGR, congenital heart defects, a cleft palate. Cause?
  18. Infant with renal abnormalities and decreased skull ossification. Cause?
    ACE inhibitors
  19. Infant with CN VIII damage, skeletal abnormalities, and renal defects. Cause?
  20. Infant with facial abnormalities, IUGR, mental retardation, cardio abnormalities, and neural tube defects. Cause?
  21. Effects of Chemo on fetus?
    • fetal demise
    • severe IUGR
    • anatomic abnormalities (bone, palate, limbs, genitals)
    • Mental retardation
    • spontaneous abortion
    • secondary neoplasms
  22. Infant with cleft palate, renal defects, and secondary neoplasms? Cause?
  23. What medication can cause vaginal or cervical cancer in the fetus when she grows up?
  24. What medication causes cartilage abnormalities?
  25. What are the fetal risks when the mother uses Heparin?
    • Prematurity
    • Fetal demise
  26. What are the fetal effects of phenytoin?
    • facial abnormalities
    • IUGR
    • mental retardation
    • cardio abnormalities
  27. What are the teratogenic effects of retinoids?
    • cns abnormalities
    • cardio abnormalities
    • facial abnormalities
    • spontaneous abortion
  28. What are the effects of Sulfonamides on a fetus?
  29. What are the effects of valproate on a fetus?
    • Neural tube defects
    • Facial abnormalities
    • CV abnormalities
    • skeletal abnormalities
  30. What are the effects of warfarin on a fetus?
    • abortion
    • IUGR
    • CNS
    • facial abnormalities
    • mental retardation
    • Dandy-Walker malformation
  31. Hydrocephalus, intracranial calcifications, chorioretinities, microcephaly, spontaneous abortion, seizures are signs of what type of congenital infection?
  32. 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?
  33. Respiratory distress, PNA, Meningitis, and sepsis are signs of what type of congenital infection?
    Group B strep
  34. Spontaneous abortion, neonatal sepsis, conjunctivitis are signs of what type of congenital infection?
    Chlamydia / Ghonorrhea
  35. Spontaneous abortion, skin lesions (blue berry muffin baby), IUGR, deafness, CV vision or CNS abnormalities, hepatitis are signs of what type of congenital infection?
  36. Prematurity, IUGR, spontaneous abortion, high risk of neonatal death are signs of what type of congenital infection?
  37. IUGR, chorioretinitis, CNS abnormalities, mental retardation, vision abnormalities, deafness, hydrocephalus, seizures, hepatosplenomegaly are signs of what type of congenital infection?
  38. Prematurity, IUGR, spontaneous abortion, neonatal death or CNS abnormalities are signs of what type of congenital infection?
  39. Neonatal anemia, deafness, hepatosplenomegaly, pna, hepatitis, osteodystrophy, 25% neonatal mortality are signs of what type of congenital infection?
  40. Rx for toxoplasmosis infection of fetus?
    • Pyrimethamine
    • Sulfadiazine, and
    • Folinic acid
  41. Rx for varicella zoster fetus infection/exposure?
    • immune globulin if mother nonimmune or to baby if born during active infection
  42. Rx for Group B strep infected fetus or neonate?
    IV B-lactams or clindamycin
  43. Rx for Gonorrhea/Chlamydia infected fetus?
  44. Rx for fetus infected with Rubella?
  45. Rx for rubeola infected fetus?
    • Immune globulin to mom
  46. Rx for CMV infection in fetus/neonate?
    • Fetus: nothing
    • Neonate: Gancyclovir
    • Good Hygene can prevent
  47. Rx for fetal / neonate infection of Hep B?
    • vaccinate mom
    • vaccinate neonate and immunglobulin
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