Neonatology

Question 1

Sturge Weber Syndrome

Answer 1

port wine stain

Question 2

Pierre robin syndrome

Answer 2

micrognathia, cleft palate, glossoptosis, obstruction of upper airway

Question 3

Beckwith Wiedemann syndrome

Answer 3

Macroglossia, hemihypertrophy, visceromegaly

• increased weight and LGA (large for gestational age)
• associated with omphalocele

Question 4

Cardiac causes of cyanosis

Answer 4

5 T’s

• tetralogy of fallot, transposition of great vessels, truncus arteriosus, tricuspid atresia, total anomalous pulmonary venous connection

Question 5

omphalocele

Answer 5

central through umbilical ring area defect, true hernia sac (abd organs covered with peritoneal sac)

Question 6

gastroschisis

Answer 6

Fissure of anterior abd wall in right paraumbilical area

Question 7

meconium ileus

Answer 7

From cystic fibrosis, abnormal accumulation of intestinal secretions and deficiency of pancreatic enzymes
- soap bubble appearance in meconium
Sx: abd distention, lack of meconium passing, vomiting

Question 8

hirschsprung disease

Answer 8

Lack of caudal migration of the ganglion cells from neural crest, contraction of distal colon causing obstruction