Lecture 28 - Overview of Congenital Malformations

Question 1

A ___________ is an abnormality of structure that results from an abnormally functioning tissue (e.g. incomplete growth, duplication).

A. Syndrome
B. Malformation
C. Mutation
D. Deformation
E. Disruption

Answer 1

B.

Question 2

Two examples of malformation abnormalities include:

Answer 2

1. incomplete growth

2. duplication

Question 3

In a __________, tissue formation is normal but abnormalities result from extrinsic causes that do not lead to tissue breakdown and loss.

A. Syndrome
B. Malformation
C. Mutation
D. Deformation
E. Disruption

Answer 3

D.

Note: Disruptions are also defined this way, except they DO lead to tissue loss. (They are more severe)

Question 4

In a __________, tissue formation is normal but abnormalities result from extrinsic causes that lead to severe tissue breakdown and loss.

A. Syndrome
B. Malformation
C. Mutation
D. Deformation
E. Disruption

Answer 4

E

Question 5

A sequence is a type of multiple malformation. How is it defined?

Answer 5

malformations linked to a single initiating event

Question 6

An __________ refers to malformations that occur together in a nonrandom manner.

Answer 6

association

Question 7

A syndrome is a complex of malformations having one of two general traits. What are these traits?

Answer 7

1. has a defined genetic cause

2. has a defined environmental insult

Question 8

What are the three types of ‘multiple malformations’?

Answer 8

1. Syndrome
2. Association
3. Sequence

Question 9

Causes of malformations encompass 5 major categories, including:

Answer 9

1. Abnormal chromosome structure or number
2. Single gene mutation
3. Multifactorial-complex disorders
4. Unknown origin (*note: 50% of malformations arise from unknown origin)
5. Environmental agent

Question 10

What is a critical period?

Answer 10

the period of maximum susceptibility to factors causing abnormal development

Question 11

The critical period of each organ is different, and linked to that organ’s:

Answer 11

time of formation

Question 12

What are two reasons that abnormalities prior to 3 weeks of development are not generally associated with congenital defects?

Answer 12

1. early embryo may be able to correct for damage

2. early embryo may not survive at all

Question 13

The most common congenital malformations are:

Answer 13

heart defects

Question 14

A syndrome is distinguished from an association by the fact that:

Answer 14

a syndrome is associated with a KNOWN mutation, chromosomal abnormality, or environmental insult