W01_02 Pathology and genetics of dysmorphism

Question 1

note: the presence of ≥ 3 anomalies often points to covert anomalies/syndromic diagnosis

Answer 1

ok

Question 2

define malformation

Answer 2

defect in organ due to intrinsically abnormal development process (e.g. genetic mutation)

Question 3

post-axial polydactyly, neural tube defects, and holoprosencephaly spectrum are what subset of single primary defect?

Answer 3

malformation

Question 4

define disruption

Answer 4

a morphologic defect resulting from the extrinsic breakdown of, or interference with, an originally normal developmental process

Question 5

amniotic band sequence is what subset of single primary defect?

Answer 5

disruption

Question 6

define deformation

Answer 6

an abnormal shape, form, or position of part of the body, due to mechanical forces (e.g. oligohydramnios)

Question 7

potter sequence is what subset of single primary defect?

Answer 7

deformation;

note: potter sequence involves kidneys not working -> less amniotic fluid -> less space for baby to grow

Question 8

define dysplasia (genetics)

Answer 8

abnormal organization of cells into abnormal tissues; a process of dishistiogenesis

Question 9

thanatophoric dysplasia and achondroplasia are a subset of single primary defect?

Answer 9

dysplasia

Question 10

define sequence

Answer 10

a pattern of multiple anomalies that arise from a single or prior anomaly (secondary defects exist in a sequence).

Question 11

what happens in oligohydramnios sequence?

Answer 11

renal agenesis or amniotic fluid leakage results in less amniotic fluid. this causes pulmonary hypoplasia and fetal compression

Question 12

define association

Answer 12

a non-random occurrence of independent malformations whose etiology is unknown

Question 13

what does VACTERL (association) stand for? note: VACTERL diagnosis is made when 3/7 defects are present

Answer 13

vertebral anomalies;
anal atresia;
cardiovascular anomalies;
tracheoesophageal fistula;
esophageal atresia;
renal anomalies;
(preaxial) limb anomalies;

Question 14

define syndrome

Answer 14

a recognized pattern of independent malformations having a single etiology

Question 15

down, marfan, polycistic kidney disease are examples of what? (syndrome, sequence, association)

Answer 15

syndromes

Question 16

what are 3 genetics databases to refer to when looking up defects?

Answer 16

OMIM, genetests.org, genereviews