Developmental Anomalies Flashcards Preview

RUSVM Pathology I > Developmental Anomalies > Flashcards

Flashcards in Developmental Anomalies Deck (26):
1

Lysosomal Storage Disease

Biological Anomaly

Genetic deficiency of particular lysosomal enzymes

2

Palatoschisis 

Anatomical Anomaly - Fusion Defects

Cleft palate - cleft in the hard palate

3

Categories of growth disorders

Developmental anomalies

Cellular adaptations

Neoplasia

4

Coloboma

Anatomical Anomaly - Fusion Defect

Cleft in the internal structures of the eye

5

Developmental anomaly depends on

Tissue tropism and timing

6

Effect on embryo/fetus when injury occurs to the embryo

Depends on the extent of injury

- Developmental anomally carried to term

- Death of embryo and abortion

7

Interventricular Cardiac Septal Defect

Anatomical Anomaly - Fusion Defect

Hole communicating between the ventricles of the heart

8

Cheliosichisis

Anatomical Anomaly - Fusion defect

Cleft lip

9

Genetic etiology of developmental anomalies

Inherited genes - often autosomal recessive

Spontaneous somatic genetic defect

Chromosomal anomalies

Breed predispositions

10

Histological appearance of lysosomal storage disease

Vacuoles filled with the accumulated substrate of deficient enzyme

11

Biochemical defects are usually due to

Genetic mutation

________________________

Usually no grossly visible malformations

12

Nature of the anatomical defect that results depends on

Timing

Tissue Injured

13

What tissue would need to be injured to result in arthrogryposis?

Muscle or CNS

14

Pathogenesis of Arthrogryposis

  1. Limbs do not move during development
  2. Muscles don't develop correctly
  3. Connective tissue matures
  4. Limbs fixed in place

15

Effect of the embryo/fetus if injury occurs to the zygote

Death and resportion → early returns to breeding/infertility

16

Biochemical defects involve

Inability to synthesize adequate amounts of a particular enzyme or other protein

17

Developmental anomalies may manifest as 

Anatomic Malformations

Biochemical Defects

18

Congenital Lesions

Defects of growth or development of a tissue or organ that are present, but not necessarily obvious, at birth

19

Anatomical developmental anomalies occur due to 

Injury of cells during embryogenesis

20

Effect on embryo/fetus when injury occurs to fetus

Illness/ death of the fetus resulting in abortion, mummification, stillbirths, weak neonates and persistant viremia immunotolerance

21

How do you determine cause of arthrogryposis and hydroencephaly?

Serology of the calf

22

Types of anatomic malformations

Failure to fuse

Failure to canalize/separate

Cysts

Failure of a structure to develop

Abnormal development of a structure

Ectopic development

23

Causes of developmental anomalies

 

Genetic defect

In utero infection

In utero exposure to teratogens

In utero nutritional deficiencies

24

Spina bifida

Anatomical Anomaly - Fusion Defects

Cleft in the dorsal tissues of the spine

25

Most susceptible cells to lysosomal storage disease

Post-mitotic (long lived) cells - accumulate more substrate

___________________________

Neurons, Skeletal and Cardiac Muscle

26

Hypospadias

Anatomical Anomaly - Fusion Defect

Cleft in the penis exposing the urethra