7. Congenital anomalies and syndromes

Question 1

malformation

Answer 1

primary error of morphogenesis- formation of structures

Question 2

disruption

Answer 2

destruction of normally developed or developing organs/ tissues

Question 3

deformation

Answer 3

mechanical distortion of normally developed or developing organs/ tissues

• from mechanical pressure
• may be reversible
• often musculoskeletal

Question 4

congenital anomalies and syndromes definition

Answer 4

altered structure of function of tissue or organ that is present at birth or is the result of a process that begins before birth

Question 5

Dysplasia

Answer 5

abnormal organisation of cells into tissues eg. squamous becomes columnar

• arent apparent at birth

Question 6

Clinical classification

Answer 6

isolated congenital abnormality
multiple congenital abnormality 
- syndrome
- association 
- sequence

Question 7

syndrome

Answer 7

consistently occurring pattern of multiple congenital abnormalities with a known cause

Question 8

association

Answer 8

non random pattern, cause unknown

Question 9

sequence

Answer 9

pattern of multiple congenital abnormalities that arise from a single primary malformation

Question 10

Aetiology of congenital abnormalities

Answer 10

Genetic: 30-40%
Environmental: 5-10%
Unknown: 50%

Question 11

Teratogen

Answer 11

agent of factor causing abnormal fetal development

Question 12

Infection teratogens

Answer 12

rubella

herpes simplex

Question 13

teratogenic drugs

Answer 13

ACEi
alcohol
thalidomide

Question 14

Congenital rubella

Answer 14

high risk of fetal infection in first trimester
IUGR, cataracts, ocular abnormalities, congenital heart disease, skin lesions- blueberry muffin
sequelae: sensorineural deafness, blindness, microcephaly (small brain), mental retardation

Question 15

Diabetic embryopathy

Answer 15

caudal regression sequence 
poorly controlled maternal diabetes 
congenital heart disease 
genito-urinary abnormalities 
neural tube defects 
femoral hypoplasia