A/53 Flashcards
What is a congenital abnormality?
Structural defect that is present at birth
Incidence of congenital abnormalities
1/ 33 births
3 categories of etiology of congenital abnormalities
- genetic
- environmental
- multifactorial
- unknown
How many congenital abnormalities are caused by genetic factors?
- 10-15% by chromosomal aberrations
- 2-10% by mendelian inheritance
Environmental factors that can cause congenital abnormalities
- Maternal / placental infections (2-3%)
- Maternal diseases (6-8%)
- Drugs and chemicals (1%)
- Irradiation (1%)
How many % of congenital abnormalities are of unknown origin?
40-60%
When is the embryo most susceptible to deformation?
3-9 weeks, during organ formation
Examples of environmental antigens that work with genetic defects to make greater anomalies
- cyclopamine
- valproic acid
- vitamin A derivate : ATRA
What will ATRA cause if there is too much of it?
retinoic acid emrbyopathy
Malformation definition
Primary error of morphogenesis
Disruption and deformation definition
Secondary destruction of an organ or body part that was previously normal
Mutations of hedgehog cause?
Holoprosencephaly
