Developmental Anomalies

Question 1

Lysosomal Storage Disease

Answer 1

Biological Anomaly

Genetic deficiency of particular lysosomal enzymes

Question 2

Palatoschisis

Answer 2

Anatomical Anomaly - Fusion Defects

Cleft palate - cleft in the hard palate

Question 3

Categories of growth disorders

Answer 3

Developmental anomalies

Cellular adaptations

Neoplasia

Question 4

Coloboma

Answer 4

Anatomical Anomaly - Fusion Defect

Cleft in the internal structures of the eye

Question 5

Developmental anomaly depends on

Answer 5

Tissue tropism and timing

Question 6

Effect on embryo/fetus when injury occurs to the embryo

Answer 6

Depends on the extent of injury

• Developmental anomally carried to term
• Death of embryo and abortion

Question 7

Interventricular Cardiac Septal Defect

Answer 7

Anatomical Anomaly - Fusion Defect

Hole communicating between the ventricles of the heart

Question 8

Cheliosichisis

Answer 8

Anatomical Anomaly - Fusion defect

Cleft lip

Question 9

Genetic etiology of developmental anomalies

Answer 9

Inherited genes - often autosomal recessive

Spontaneous somatic genetic defect

Chromosomal anomalies

Breed predispositions

Question 10

Histological appearance of lysosomal storage disease

Answer 10

Vacuoles filled with the accumulated substrate of deficient enzyme

Question 11

Biochemical defects are usually due to

Answer 11

Genetic mutation

________________________

Usually no grossly visible malformations

Question 12

Nature of the anatomical defect that results depends on

Answer 12

Timing

Tissue Injured

Question 13

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

Answer 13

Muscle or CNS

Question 14

Pathogenesis of Arthrogryposis

Answer 14

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

Question 15

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

Answer 15

Death and resportion → early returns to breeding/infertility

Question 16

Biochemical defects involve

Answer 16

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

Question 17

Developmental anomalies may manifest as

Answer 17

Anatomic Malformations

Biochemical Defects

Question 18

Congenital Lesions

Answer 18

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

Question 19

Anatomical developmental anomalies occur due to

Answer 19

Injury of cells during embryogenesis

Question 20

Effect on embryo/fetus when injury occurs to fetus

Answer 20

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

Question 21

How do you determine cause of arthrogryposis and hydroencephaly?

Answer 21

Serology of the calf

Question 22

Types of anatomic malformations

Answer 22

Failure to fuse

Failure to canalize/separate

Cysts

Failure of a structure to develop

Abnormal development of a structure

Ectopic development

Question 23

Causes of developmental anomalies

Answer 23

Genetic defect

In utero infection

In utero exposure to teratogens

In utero nutritional deficiencies

Question 24

Spina bifida

Answer 24

Anatomical Anomaly - Fusion Defects

Cleft in the dorsal tissues of the spine

Question 25

Most susceptible cells to lysosomal storage disease

Answer 25

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

___________________________

Neurons, Skeletal and Cardiac Muscle

Question 26

Hypospadias

Answer 26

Anatomical Anomaly - Fusion Defect

Cleft in the penis exposing the urethra