Congenital malformations Flashcards
What causes cleft lip/palate
Failure of fusion of frontonasal and maxillary processes
PSYCH DRUGS:
phenytoin use
benzodiazepine use
What types of cleft lip is there?
Combined lip and palate: 45%
Isolated cleft palate 40%
Isolated cleft lip 15%
How is cleft palate detected?
74% detected on 20w anomaly scan
Which condition is associated with cleft lip?
Secretory otitis media
How to manage cleft lip?
Can try lip tapping, nasal alveolar moulding to narrow cleft prior to surgery
Surgery:
3m for cleft lip
6-12m for cleft palate
What is congenital diaphragmatic hernia?
Herniation of abdominal viscera into chest cavity due to incomplete formation of diaphragm
often have associated pulmonary hypoplasia
What is the most common type of diaphragmatic hernia?
Bochdalek hernia = loops of bowel into left chest area
What are the symptoms of congenital diaphragmatic hernia?
Resp distress in neonate that fails to resolve
bowel sounds heard in chest
liver detected in thoracic cavity - poor prognosis
What is indicative of poor prognosis in diaphragmatic hernia?
liver in thoracic cavity
Investigation to diagnose diaphragmatic hernia?
CXR
What is Oesophageal atresia?
Malformation of OS so it doesnt connect to stomach
What is tracheosophageal fistula (TOF)
Part of OS joined to trachea
often goes hand in hand with OS atresia
Which type of TOF& OS atresia is most common?
Type C
What is OS associated with?
polyhydramnios
How to investigate for OS atresia?
NG tube to aspirate stomach = quick test
Gold standard: gastrograffin swallow
What is biliary atresia?
blockage in the bile ducts going to the liver due to progressive fibrosis and then obliteration
If biliary atresia is left untreated what will it lead to?
Conjugated hyperbilirubinaemia
Liver failure and death
Signs and symptoms of biliary atresia?
Obstructive jaundice:
- mild jaundice, pale stools, dark urine
No vomiting
Faltering growth
hepatosplenomegaly
Investigations to do for biliary atresia?
1st line USS = triangular cord sign
LFTs: GGT will be raised
cong Bili will be raised after 2 weeks = red flag to prompt ix
What is the gold standard scan for biliary atresia?
TIBIDA isotope scan
What is seen on USS when looking for biliary atresia?
triangular cord sign
How to manage biliary atresia 1st line?
Surgery : kasai hepatoportoenterostomy
2nd line if fails : transplant
How to manage the complications of biliary atresia?
FUP:
F = fat soluble vitamins
U = ursodeoxycholic acid promotes bile flow
P = prophylactic abx to prevent cholangitis
