Congenital Anomolies

Question 1

What are the 3 neonatal faciomax and airway anomalies?

Answer 1

1. Pierre Robin sequence: characterized by-a cleft palate, micrognothia/retrognathia, airway obstruction.
   - children will have a short mandible and lower jaw, the back of the tongue can obstruct the airway. Treatment includes nurse prone side to side, mod nasopharyngeal tube, CPAP/ETT intubation, tracheostomy and mandibular distraction.
2. Choanal atresia: obstruction of airway at the junction of nasal cavity and pharynx, infants become cyanosed when mouth is closed.
   Management-Guedel, corrective surgery and nasal stents.
3. TOF (tracheo-oesopharyngeal fistula): an abnormal connection b/w the trachea and oesophagus.
   Management-OT within first day of life

Question 2

What does CHARGE stand for?

Answer 2

C-coloboma of the eyes
H-heart defects (TOF, PDA, VSA, ASD)
A-atresia of choanae 
R-renal anomalies and restriction of development 
G-genital/urinary abnormalities 
E-ear anomalies/deafness

Question 3

What is CDH?

Answer 3

Congenital diaphragmatic hernia. It is a defect is the closure of the diaphragm, allowing abdo contents to herniate into the chest cavity

Question 4

What is gastroschisis?

Answer 4

Characterized by herniation of bowel and other abdo wall defects. Surgery occurs in 6-12 hours. Can be primary repairs, application of silo and a clip and drop approach

Question 5

What is exomphalos/omphalocele?

Answer 5

A protrusion of intestinal contents through the abdo wall at the umbilicus

Question 6

What are the different types of bowel obstruction?

Answer 6

1. Hirschsprungs
2. Bowel atresia/stenosis
3. Meconium ileus
4. Imperforate anus
5. Malrotation +/- volvulus