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Pathology 1 (Black Semester) > Developmental Anomalies > Flashcards

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
Q

Biochemical defects usually show grossly visible malformations

True or False?

A

False

NO grossly visible malformations (due to genetic mutation)

26
Q

What is a gross description and microscopic description to lysosomal storage diseases?

A

Grossly -> No visible malformation

Microscopically -> Vacuoles filled with accumulated substrate of deficient enzyme

27
Q

What 2 post-mitotic (long-lived) cells most susceptible to Lysosomal Storage Diseases?

A

1) Neurons
2) Skeletal and cardiac muscle

Pathology 1 (Black Semester) (7 decks)

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