Developmental Anomalies Flashcards
Lysosomal Storage Disease
Biological Anomaly
Genetic deficiency of particular lysosomal enzymes
Palatoschisis
Anatomical Anomaly - Fusion Defects
Cleft palate - cleft in the hard palate
Categories of growth disorders
Developmental anomalies
Cellular adaptations
Neoplasia
Coloboma
Anatomical Anomaly - Fusion Defect
Cleft in the internal structures of the eye
Developmental anomaly depends on
Tissue tropism and timing
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
Interventricular Cardiac Septal Defect
Anatomical Anomaly - Fusion Defect
Hole communicating between the ventricles of the heart
Cheliosichisis
Anatomical Anomaly - Fusion defect
Cleft lip
Genetic etiology of developmental anomalies
Inherited genes - often autosomal recessive
Spontaneous somatic genetic defect
Chromosomal anomalies
Breed predispositions
Histological appearance of lysosomal storage disease
Vacuoles filled with the accumulated substrate of deficient enzyme
Biochemical defects are usually due to
Genetic mutation
________________________
Usually no grossly visible malformations
Nature of the anatomical defect that results depends on
Timing
Tissue Injured
What tissue would need to be injured to result in arthrogryposis?
Muscle or CNS
Pathogenesis of Arthrogryposis
- Limbs do not move during development
- Muscles don’t develop correctly
- Connective tissue matures
- Limbs fixed in place
Effect of the embryo/fetus if injury occurs to the zygote
Death and resportion → early returns to breeding/infertility
Biochemical defects involve
Inability to synthesize adequate amounts of a particular enzyme or other protein
Developmental anomalies may manifest as
Anatomic Malformations
Biochemical Defects
Congenital Lesions
Defects of growth or development of a tissue or organ that are present, but not necessarily obvious, at birth
Anatomical developmental anomalies occur due to
Injury of cells during embryogenesis
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
How do you determine cause of arthrogryposis and hydroencephaly?
Serology of the calf
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
Causes of developmental anomalies
Genetic defect
In utero infection
In utero exposure to teratogens
In utero nutritional deficiencies
Spina bifida
Anatomical Anomaly - Fusion Defects
Cleft in the dorsal tissues of the spine
Most susceptible cells to lysosomal storage disease
Post-mitotic (long lived) cells - accumulate more substrate
___________________________
Neurons, Skeletal and Cardiac Muscle
Hypospadias
Anatomical Anomaly - Fusion Defect
Cleft in the penis exposing the urethra
