Genetics Exam Iii Lecture 27

Front 1

what percent of congenital anomalies are major?

Back 1

95%

Front 2

define deformation

Back 2

abnormalities of shape and structures whose inital differentiation and development were normal

Front 3

what might cause deformtion

Back 3

uterine constraint

Front 4

do deformations have a low or high recurrence rate

Back 4

very low
prognosis is excellent

Front 5

define disruption

Back 5

secondary changes arising in early fetal life typicaly involving tissue destruction and resulting in marketdly anomalous development of that were initially normal tissues or organs

Front 6

when do disruptions occur?

Back 6

early fetal life

Front 7

will disruptions resolve without intervention

Back 7

no!

Front 8

is recurrence risk of disruption high or low

Back 8

low

Front 9

def. inherent abnormality of single tissue

Back 9

dysplasia

Front 10

def. primary abnomality of differentiation originating in the embryonic period

Back 10

malformation

Front 11

is recurrence risk of malformation high or low

Back 11

high! well higher

Front 12

what is smith lemli opitz sydrom

Back 12

defect in cholesterol metabolism
microcephaly, facial characteristics, polydactyly
ambiguous genitalia

Front 13

what is another name for achondroplasia

Back 13

skeletal dysplasia
disorder of bone growth

Front 14

def. group of pathologically related anomalies that occur together more often than expected by chance

Back 14

syndrome

Front 15

def a constellation of anomalies derived from one primary anomaly

Back 15

sequence

Front 16

def. anomalies that occur together with unknown relationship

Back 16

association

Front 17

defect caused by intrinsically abnormal morphological development

Back 17

malformation

Front 18

defect of structure or position resulting rom action of abnormal extrinsic mechanical forces on intrinsically normal development

Back 18

deformation

Front 19

extrinsic breakdown of or interference with originally normal development

Back 19

disruption

Front 20

amniotic bands are an example of

Back 20

disruption

Front 21

abnormal organization of cells or tissues

Back 21

dysplasia

Front 22

any abnormal characteristic

Back 22

anomaly

Front 23

abnormally formed

Back 23

dymsophic

Front 24

present at birth but not genetic

Back 24

congenital

Front 25

nonrandom occurrences of multiple anomalies not explained by chance but wihtout a single, consistent, underlying cause that has been IDed

Back 25

association

Front 26

VACTERL is an example of what

Back 26

association

Front 27

one malformation that often leads to a cascade consequences that may at first seem like one malformation rather than just once

Back 27

sequence

Front 28

Robin and potter are examples of ____

Back 28

sequence