Developmental Anomalies Flashcards

1
Q

Term used when having defects of growth or development of a tissue or organ that are present, but not necessarily obvious at birth

A

Congenital lesions

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2
Q

What are 2 types of Developmental Anomalies?

A

1) Anatomical
2) Biochemical

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3
Q

What is the MDx?

A

Arthrogryposis

(limbs fixed in place)

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4
Q

What is the MDx?

A

Hydranencephaly

(water in brain)

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5
Q

When affected with Akabane (Bunyavirus), the result…

  • Infected 120-180 days -> ?
  • Infected 80-100 days –> ?
A

Infected 120-180 days -> Arthrogryposis

Infected 80-100 days –> Hydranencephaly

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6
Q

What are 6 types of Anatomic Malformations?

A

1) Failure to fuse
2) Failure to canalize/separate
3) Cysts
4) Failure of a structure to develop
5) Abnormal development of a structure
6) Ectopic development

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7
Q

The nature of the anatomical defect that results depends on? (2 things)

A
  1. Timing
  2. Tissue injured
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8
Q

What are the 3 periods of gestation of when injury can occur and the effects on the embyronal cells?

A

1) Zygote -> Death and reabsorption
2) Embryo (organogensis) -> depends on extend of injury:

  • 1.Developmental anomaly carried to term
    1. Death of embryo and abortion

3) Fetus (growth) -> Illness/death of fetus

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9
Q

You think a fetal viral infection is the cause…

What is the best approach to confirm?

A

Serology of calves

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10
Q

MDx: ?

Disease name: ?

Type of Anatomical Defect: ?

(Dog pancreas)

A

MDx: Pancreatic aplasia

Disease name: Exocrine pancreatic insufficiency

Type of Anatomical Defect: Failure to develop

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11
Q

MDx: ?

Disease name: ?

Type of Anatomical Defect: ?

(dog pancreas)

A

MDx: Pancreatic hypoplasia

Disease name: Exocrine pancreatic insufficiency

Type of Anatomical Defect: Failure to develop

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12
Q

MDx: ?

Type of Anatomical Defect: ?

(Calf/Puppy)

A

MDx: Spina Bifida

Type of Anatomical Defect: Failure to fuse

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13
Q

MDx: ?

Type of Anatomical Defect: ?

(calf brain)

A

MDx: Meningoencephalocele

Type of Anatomical Defect: Failure to fuse

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14
Q

MDx: ?

Type of Anatomical Defect: ?

(calf brain)

A

MDx: Maxillary brachygnathia and palatoschisis (cleft palate)

Type of Anatomical Defect: Failure to fuse

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15
Q

MDx: ?

Type of Anatomical Defect: ?

(calf)

A

MDx: Schistosomus reflexus

Type of Anatomical Defect: Failure to fuse

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16
Q

MDx: ?

Type of Anatomical Defect: ?

(lamb)

A

MDx: atresia ani

Type of Anatomical Defect: Failure to canalize

17
Q

MDx: ?

Disease name: ?

Type of Anatomical Defect: ?

(cat kidneys)

A

MDx: Renal cysts

Disease name: Polycystic kidney disease

Type of Anatomical Defect: Cyst

18
Q

MDx: ?

Disease name: ?

Type of Anatomical Defect: ?

(dog brain)

A

MDx: Pituitary cyst (Raphke’s puch cyst)

Disease name: Pituitary dwarfism

Type of Anatomical Defect: Cyst

19
Q

MDx: ?

Disease name: ?

Type of Anatomical Defect: ?

(littermate puppies)

A

MDx: Proportionate dwarfism

Disease name: Pituitary dwarfism

Type of Anatomical Defect: Cyst

20
Q

MDx: ?

Type of Anatomical Defect: ?

(calf feet)

A

MDx: Polydactyly

Type of Anatomical Defect: Abnormal development of a structure

21
Q

MDx: ?

Type of Anatomical Defect: ?

(sheep thoracic limbs)

A

MDx: Polymelia

Type of Anatomical Defect: Abnormal development of a structure

22
Q

MDx: ?

Disease name: ?

Type of Anatomical Defect: ?

(dog coxofemoral joints)

A

MDx: Coxofemoral malformation

Disease name: Hip dysplasia

Type of Anatomical Defect: Abnormal development of a structure

23
Q

MDx: ?

Type of Anatomical Defect: ?

(calf heart)

A

MDx: Ectopia cordis

Type of Anatomical Defect: Ectopic development

24
Q

What are 4 examples of Biochemical Defects?

A

1) Haemophilia
2) Lysosomal storage diseases
3) Dermatosporaxis
4) Albinism

25
Biochemical defects usually show grossly visible malformations True or False?
False NO grossly visible malformations (due to genetic mutation)
26
What is a gross description and microscopic description to lysosomal storage diseases?
Grossly -\> No visible malformation Microscopically -\> Vacuoles filled with accumulated substrate of deficient enzyme
27
What 2 post-mitotic (long-lived) cells most susceptible to Lysosomal Storage Diseases?
1) Neurons 2) Skeletal and cardiac muscle