genetics and pathobio 2

Question 1

what is spectrum of dysmorphic phenotypes

Answer 1

minor to major anomalies

Question 2

def. minor anomalies

Answer 2

unusual anatomic feature that is of no consequence to PT

Question 3

2 types of major anomoalies

Answer 3

1. primary - malformation

2. secondary - disruption or deformation

Question 4

what is 3 or more minor anomalies

Answer 4

points to covert anomalies or syndromic diagnosis

Question 5

def. malformation

Answer 5

morphological defect of an organ resulting from an intrinsically abnormal dev. process

Question 6

def. disruption

Answer 6

morphological defect resulting from the extrinsic breakdown or interference with a normally developing process

Question 7

def. deformation

Answer 7

abnormal shape or form caused by mechanical forces

Question 8

def. dysplasia

Answer 8

abnormal organisation of cells into tissue

Question 9

2 classes of birth defects

Answer 9

1. single

2. multiple

Question 10

3 types of multiple defects

Answer 10

1. sequence
2. syndrome
3. association

Question 11

def. sequence

Answer 11

a pattern of multiple anomalies derived from a single known or presumed underlying prior anomaly (like ogliohydramnoes)

Question 12

def. association

Answer 12

non-random occurence of indep. malformations whose etiology is unknown - eg. VACTERL

Question 13

def. syndrome

Answer 13

recognized pattern of dev. independent malformations from one etilogy (eg. down’s syndrome)

Question 14

check out the matching things

Answer 14

mmm. hmm…