L7: Congenital defects and their scientific basis Flashcards
congenital=
present at birth
anomaly=
structural deviation from the norm
malformation=
primary deviation of embryogenesis
disruption=
secondary disturbance due to early influence of external factors (starts okay then goes wrong)
deformation=
late changes in previously normal structures (was okay got squashed)
teratogen congenital infections
TORCH (toxoplasmosis, other, rubella, cytomegalovirus, herpes)
effect in weeks 2-4=
polytopic field defect
effect in weeks 2-8=
monotropic field defect
organs affected=
organogenesis
when are organs affected
> 9wks
2 polytopic field defects
di george
VACTERAL
what does di george effect
heart
thymus
VACTERAL=
vertebral anomalies anal atresia cardiac abnormalities tracheo-esophageal fistula renal anomalies limb anomalies
2 e.g monotopic field defect=
cleft lip
tracheo-oesophageal fistula
eg of organogenesis defect
neural tube defect (spina bifida)
2 e.g of a disruption
amniotic bands
poland anomaly
what is poland anomaly
interruption of subclavian artery vascular supply can lead to lack of breast in half of body
what causes poland anomaly
mother using cocaine
e.g of a sequence
potters sequence
what is potters sequence
kidneys don’t form –> no urine –> no amniotic fluid –> loss of lung fluid –> pulmonary hypoplasia –> squashed baby
what genes are often involved in gene defects
transcription factor
trisomy 21=
downs
trisomy 18=
edwards syndrome
trisomy 13=
patau syndrome
congenital rubella causes
yellow skin
spotty
eye and brain abnormalities
hearing affected later
foetal alcohol syndrome causes (4)
IUGR
Learning difficulties
dysmorphic features
behavioural problems
