CattleII- Congenital Defects

  1. What is arthogryposis?
    "crooked joints", congenital articular rigidity, abnormal development of the nervous system
  2. Arthrogryposis may be caused by... (3 pathologic processes)
    heritable defect of skeletal muscle, abnormal development of nervous system, consumption of toxins or viral infections during gestation
  3. Describe the presentation of arthrogryposis.
    rigid joints (bilateral or unilateral), scoliosis, kyphosis, torticollis, limb rotation; sometimes stillborn, sometimes born alive
  4. What is the underlying pathogenesis of arthrogryposis?
    failure of in utero limb movement
  5. What is dysraphism?
    recognizable lesions caused by arrest or delay of neural tube closure (can see spinal cord exiting the spine, +/- exposed to environment), hypoplasia of spinal cord; sometimes associated with arthrogryposis
  6. How does dysraphism present?
    cannot stand, unable to ambulate, extension of rear legs bilaterally at rest
  7. Why has there been an increased incidence f Bluetongue virus in northern europe?
    increased ambient temps has lead to increased vector prevalence
  8. What are viral causes of arthrogryposis?
    akabane virus, aino virus, cache valley virus, bluetongue virus, BVDv, border disease virus, schmallenberg virus
  9. What toxic plants are linked to arthrogryposis, scoliosis, cleft palate, limb rotations, osteoporosis, bone fragility, etc?
    • Veratrum 
    • Lupinus
    • Conium maculatum (hemlocks)
    • Nicotiana tabacum
    • Datura stramonium (jimsonweed)
    • Locoweeds
  10. When ingested in the first trimester, __________ causes cleft palate, kyphosis, and arthrogryposis.
    Nicotiana tabacum
  11. Describe Akabane.
    infection of pregnant, naive ruminants--> hydrancephaly, arthogryposis
  12. Describe Aino virus.
    infection of pregnant, naive ruminants--> hydrancephaly, arthogryposis
  13. Describe Cache valley virus.
    arthogryposis, hydrancephaly in newborn lambs
  14. Describe Bluetongue virus.
    • bovine fetus most susceptible ~125days--> hydrancephaly, arthrogryposis, brachygnathia, excessive gingival tissue
    • infection later--> abortion
    • calves may become PI and shed
    • problem for wild bighorn sheep living around cattle herds
  15. Describe BVDv.
    hydrancephaly, hydrocephalus, cerebellar hypoplasia when infected <150 days in gestation
  16. Describe Schmallenberg virus.
    • transmitted by hematophagous insects
    • arthogryposis, vertebral malformations, brachygnathia inferior, hydrancephaly, hydrocephalus, cerebellar hypoplasia, micromyelia
  17. What toxic plant is associated with cyclopian fetuses?
  18. Lupine infection during pregnancy is associated with ___________, and is especially prevalent in the ___________.
    arthogryposis; Alpines
  19. When is it most likely that ingestion of a toxin plant will cause birth defects and why?
    early on in gestation b/c later on, most of the "parts" are already fully formed and just getting bigger
  20. Describe double muscling genetics.
    muscular hyperplasia and increased # of muscle fibers due to a mutation in the myostatin gene
  21. What are advantages and disadvantages to doubling muscling?
    • Advantages: more meat, tender meat
    • Disadvantages: almost all have dystocia, C- section necessary
  22. What is unique about the Piedmontese registry?
    must have evidence of at least one mutant allele for myostatin (doubling muscling) in order to be registered
  23. What are "Bully Whippets"?
    mutation of myostatin from a 2 nucleotide deletion, leading to increased muscularity and faster dogs
  24. What genetic mutation do Texel sheep have?
    double muscling due to myostatin G to A mutation--> very tough meat
  25. Disorders of synthesis of bone matrix are known as _____________.
    osteogenesis imperfecta
  26. Disorders of bone remodeling are known as ___________.
  27. What are the major types of dwarfism, and what causes them? (4)
    • chondrodysplasia (defects in cartilage formation that affects growth/development on bones formed by endochondral ossification)
    • bulldog type, telemark, snorter/ brachycephalic, long-headed
  28. Describe bulldog dwarfs in Dexters.
    incompletely dominant gene, so homozygotes are bulldog dwarfs and heterozygotes just have short legs
  29. Describe bulldog dwarfism. (7)
    short limbs, rotated, domed head, short maxilla, prognathic, ventral abdominal hernia, LETHAL dwarfism
  30. Bulldog dwarfism is associated with __________.
    genetic defect in aggrecan gene
  31. Describe telemark lethal dwarfism.
    autosomal recessive, calves are born alive but cannot stand, die of suffocation after birth, looks like milder form of bulldog
  32. Describe brachycephalic dwarfism.
    short stature, pendulous abdomen, recurrent bloat, bulging forehead, short maxilla, shortened vertebral column, distal limb bones are shorter than proximal
  33. What causes proportionate dwarfism?
    autosomal dominant, low growth factor levels?
  34. Ovine chondrodysplasia always occurs in __________ and is characterized by...
    black-faced sheep (Suffolk or Hampshire); spider lamb syndrome, semi-lethal, autosomal recessive, descendants of "Walking Tall" (suffolk sire that disseminated his mutation)
  35. Describe spider lamb syndrome.
    • heterozygotes- long-limbs, narrow trunk
    • homozygotes- valgus deformity (knock kneed), axial skeleton deviation, roman nose
  36. Osteopetrosis is called _________ and occurs predominantly in _________.
    marble bone disease; Red Angus
  37. What causes osteopetrosis/ marble bone disease?
    accumulation of primary spongiosa in marrow cavities caused by an autosomal recessive gene
  38. Describe the presentation of osteopetrosis/ marble bone disease.
    small premature calves, brachygnathia, stillbirth, protruding tongue, abnormal TMJ joint (can't open mouth), shorter bones, dense medullary cavities
  39. What is the genetic test for osteopetrosis/ marble bone disease?
    test IDs mutant SLC4A2 anion exchanger
  40. What is tibial hemimelia?
    bilaterally malformed or absent tibia and giant abdominal hernia, shaggy haircoat, retained testicles, meningocoele, pelvis does not fuse
  41. What causes tibial hemimelia?
    recessive allele resulting in homozygous state (common in club calf circles- utilize genetic testing)
  42. Describe the pathogenesis and outcome of PHA.
    lungs are small and not developed, don’t get rid of fluid as they should; lungs and kidneys are very important for circulation of amniotic fluid, without lungs they get very edematous; cow goes into labor even though the calf is dead, but the calf won’t come out; can try to put pvc pipe down calf’s throat to try and puncture a hole and release fluid, making it easier to pull; usually need C-section, cow usually still dies
  43. What does PHA look like on post-mortem?
    hypoplastic lungs, normal CVS, no lymphatics, edematous/ anasarca
  44. Glycogen phosphorylase deficiency occurs in _________ and causes...
    Charolais; exercise intolerance, myalgia, recurrent myoglobinuria, weak calves, elevated CPK and AST, azotemia; diagnosed by muscle biopsy
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CattleII- Congenital Defects
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