W01_02 Pathology and genetics of dysmorphism Flashcards Preview

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Flashcards in W01_02 Pathology and genetics of dysmorphism Deck (16)
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1
Q

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

A

ok

2
Q

define malformation

A

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

3
Q

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

A

malformation

4
Q

define disruption

A

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

5
Q

amniotic band sequence is what subset of single primary defect?

A

disruption

6
Q

define deformation

A

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

7
Q

potter sequence is what subset of single primary defect?

A

deformation;

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

8
Q

define dysplasia (genetics)

A

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

9
Q

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

A

dysplasia

10
Q

define sequence

A

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

11
Q

what happens in oligohydramnios sequence?

A

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

12
Q

define association

A

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

13
Q

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

A
vertebral anomalies;
anal atresia;
cardiovascular anomalies;
tracheoesophageal fistula;
esophageal atresia;
renal anomalies;
(preaxial) limb anomalies;
14
Q

define syndrome

A

a recognized pattern of independent malformations having a single etiology

15
Q

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

A

syndromes

16
Q

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

A

OMIM, genetests.org, genereviews

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