L7: Congenital defects and their scientific basis Flashcards Preview

Block 11: Ellen > L7: Congenital defects and their scientific basis > Flashcards

Flashcards in L7: Congenital defects and their scientific basis Deck (26)
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1
Q

congenital=

A

present at birth

2
Q

anomaly=

A

structural deviation from the norm

3
Q

malformation=

A

primary deviation of embryogenesis

4
Q

disruption=

A

secondary disturbance due to early influence of external factors (starts okay then goes wrong)

5
Q

deformation=

A

late changes in previously normal structures (was okay got squashed)

6
Q

teratogen congenital infections

A

TORCH (toxoplasmosis, other, rubella, cytomegalovirus, herpes)

7
Q

effect in weeks 2-4=

A

polytopic field defect

8
Q

effect in weeks 2-8=

A

monotropic field defect

9
Q

organs affected=

A

organogenesis

10
Q

when are organs affected

A

> 9wks

11
Q

2 polytopic field defects

A

di george

VACTERAL

12
Q

what does di george effect

A

heart

thymus

13
Q

VACTERAL=

A
vertebral anomalies 
anal atresia 
cardiac abnormalities 
tracheo-esophageal fistula
renal anomalies 
limb anomalies
14
Q

2 e.g monotopic field defect=

A

cleft lip

tracheo-oesophageal fistula

15
Q

eg of organogenesis defect

A

neural tube defect (spina bifida)

16
Q

2 e.g of a disruption

A

amniotic bands

poland anomaly

17
Q

what is poland anomaly

A

interruption of subclavian artery vascular supply can lead to lack of breast in half of body

18
Q

what causes poland anomaly

A

mother using cocaine

19
Q

e.g of a sequence

A

potters sequence

20
Q

what is potters sequence

A

kidneys don’t form –> no urine –> no amniotic fluid –> loss of lung fluid –> pulmonary hypoplasia –> squashed baby

21
Q

what genes are often involved in gene defects

A

transcription factor

22
Q

trisomy 21=

A

downs

23
Q

trisomy 18=

A

edwards syndrome

24
Q

trisomy 13=

A

patau syndrome

25
Q

congenital rubella causes

A

yellow skin
spotty
eye and brain abnormalities
hearing affected later

26
Q

foetal alcohol syndrome causes (4)

A

IUGR
Learning difficulties
dysmorphic features
behavioural problems