Congenital anomalies and syndromes Flashcards
1
Q
Definition of malformation
A
Primary error of morphogenesis
2
Q
Definition of disruption
A
Destruction of normally developed or developing organs/tissues
3
Q
Definition of dysplasia
A
Abnormal Organisation of cells into tissues
4
Q
Different types of abnormalities
A
- syndrome
- association
- sequence
5
Q
Examples of multifactorial abnormalities
A
- cleft lip
- neural tube defects
- congenital heart disease
6
Q
What’s teratogenic
A
Malformations produced in an embryo
7
Q
What are some examples of teratogenic drugs
A
- alcohol
- vitamin
- warfarin
8
Q
Infectious teratogens
A
- syphilis
- rubella
9
Q
Syndromes caused by the deletion of a chromosome
A
Cri du chat
10
Q
Syndrome caused by an autosomal recessive gene
A
cystic fibrosis
11
Q
Syndrome caused by an autosomal dominant gene
A
Marfan syndrome (genetic condition affecting connective tissue)
12
Q
What is classification of congenital abnormalities useful for
A
Genetic counseling
