congenital abnormalities Flashcards
1
Q
what is biliary atresia
A
obstruction of flow of bile due to bile duct section being narrowed or absent
2
Q
biliary atresia presentation
A
- conjugated bilirubin
- presents within first few weeks of life with jaundice, reduced appetite and growth disturbance
- dark urine and pale stools
3
Q
biliary atresia management
A
surgery
4
Q
congenital adrenal hyperplasia diagnosis
A
raised 17-hydroxyprogesterone
5
Q
spina bifida cause
A
failure of neural tube to close
6
Q
cleft lip/palate cause
A
- maternal anti-epileptic use increases risk
- due to failure in fusion of maxilla
- polygenic inheritance
7
Q
what is laryngomalacia
A
congenital abnormality of the larynx
