Congenital Malformations

Question 1

What is a cleft lip/ palate?

What are the subcategories of cleft lip/palate?

Answer 1

failure of fusion of the frontonasal and maxillary processes

Types: combined cleft lip and palate (45%) > isolated cleft palate (40%) > isolated cleft lip (15%)

Question 2

Risk factors and Investigations for cleft lip/palate?

Answer 2

maternal antiepileptic use and maternal bdz use

75% are detected 20w anomaly scan

Question 3

Management for cleft lip/palate?

Answer 3

MDT (plastic surgeon, ENT surgeon, paediatrician, orthodontist, audiologist, SALT

Surgery is definitive

Question 4

What is a Diaphragmagmatic Hernia?

Answer 4

occurs at 6-8 weeks of pregnancy - diaphragm does not form correctly

intestine moves through left chest area

85% = left sided hernia

Question 5

Signs and symptoms of DH?

Answer 5

diagnosed on routine USS or after respiratory distress at delivery:

concave chest at birth
RDS
intestinal obstruction
volvulus of stomach

Question 6

Investigations of DH?

Answer 6

CXR
Blood gas
U+Es
SpO2

Question 7

Management of DH?

Answer 7

NG tube and suction to prevent distension of intrathoracic vowel

surgery reduction and repair -> re-expansion of lung -> ventilatory support

Question 8

What is Tracheoesophageal Fistula and Oesophageal Atresia?

Answer 8

OA = malformation of oesophagus so it does not connect to stomach

TOF = part of oesophagus joined to trachea; often occurs alongside OA

stomach acid can regurgitate and go into the lungs

Question 9

Investigations for TOF and OA?

Answer 9

NG tube to aspirate stomach contents can quickly confirm/exclude

Gastrograffin swallow

Question 10

Management of TOF and OA?

Answer 10

1st = Replogle tube to provide continuous suction of pooled secretions from the proximal portion of the atretic esophagus.

Antibiotics - ampicillin can also be used

o 2nd = Surgical repair (few days of birth/neonatal) à NICU and ventilator support

Question 11

What is Biliary Atresia?

Answer 11

blockage in the tubes (ducts) that carry bile from the liver to the gallbladder.

Progressive fibrosis and obliteration of extra- and intra-hepatic trees à chronic liver failure in 2 years

Question 12

Signs and symptoms of biliary atresia?

Answer 12

Mild jaundice, pale stools, dark urine

N.B. no vomiting

normal birthweight –> faltering growth

hepatosplenomegaly

Question 13

Investigation for biliary atresia?

Answer 13

1st = USS à triangular cord sign PT / INR

o LFTs (AST, ALT, ALP, GGT raised – biliary) FBC

o GOLD-STANDARD = TIBIDA isotope scan

o CONFIRMATION = ERCP ± biopsy

Question 14

Management of biliary atresia?

Answer 14

Kasai hepatoportoenterostomy (involves ligating the fibrous ducts above the join with the duodenum and joining an end of the duodenum directly to the porta hepatis of the liver

Question 15

What are some of the complications of biliary atresia and how are they managed?

Answer 15

growth failure, portal hypertension, cholangitis, ascites

Fat Soluble Vitamins
Ursodeoxycholic acid
Prophylactic Antibiotics to prevent cholangitis

Question 16

What is small bowel atresia?

Answer 16

Congenital malformation of the small bowel à absence or complete closure of a part of its lumen

Duodenal atresia - associated with polyhydramnios, Down’s

Duodenal stenosis - no vomiting,

Question 17

Signs and symptoms of small bowel atresia ?

Answer 17

bile-stained vomiting

abdominal distension

Question 18

Investigations of small bowel atresia?

Answer 18

Bloods – LFT, total serum BR (interpret as uBR), INR, serum amino acids

o Urinary – organic acids, succinyl acetone, bile acids, lactate: pyruvate ratio

o Imaging – AXR, CXR, USS and cholangiogram, Tc-99m scan

Question 19

Management of small bowel atresia?

Answer 19

ABCDE to stabilise neonate

Surgical - primary anastomosis

Question 20

Complications of small bowel atresia?

Answer 20

Pulmonary aspiration

o Anastomotic complications (stenosis or leak)

o Proximal bowel may have abnormal peristalsis – may need prolonged post-op TPN

Question 21

What are Urinary Tract Anomalies?

Answer 21

Congenital structural abnormalities of kidneys, bladder or urethra

Question 22

Causes of UTA?

Answer 22

Renal:
Multicystic kidneys (AR PKD) Medullary spongy kidney
Renal agenesis
Horseshoe kidney

Non-Renal:
Pelvoureteric junction (PUJ) obstruction (2nd to stenosis, atresia of proximal ureter)

o Vesicoureteral reflux (VUR) – in 30% of children presenting with UTIs

o Bladder outlet obstruction

Question 23

Signs and symptoms of UTA?

Answer 23

antenatally - oligohydramnios

postnatally - irritablity, infections, intra-abdominal mass, haematuria, renal calculi , htn, hepatosplenomegaly

Question 24

Investigations for UTA?

Answer 24

Renal USS

Genetic karyotyping à Potter sequence

Question 25

What are Anorectal Malformations?

Answer 25

Low anorectal anomaly – anus closed over, in a different position or narrower than usual + fistula to skin

· High anorectal anomaly – bowel has closed end at high level, does not connect with anus, usually associated with bladder/urethral/vaginal fistula

Question 26

Signs and symptoms of anorectal malformation?

Answer 26

No/delayed meconium à swollen abdomen, vomiting

If fistula – may pass stool from abnormal area

Question 27

Investigations for anorectal malformation?

Answer 27

Clinical

Neonatal check

Question 28

Management for Anorectal Malformation?

Answer 28

Surgical correction by 9m (depending on specific anomaly) à i.e. anorectoplasty + loop stoma

Question 29

Management for Anorectal Malformation?

Answer 29

Surgical correction by 9m (depending on specific anomaly) à i.e. anorectoplasty + loop stoma

Question 30

What is Cryptorchidism?

Answer 30

Undescended Testes
RF = prematurity

o Normal descent is by 3m of age however, it can take up to 6m to fully descend

Question 31

Management of Cryptorchidism?

Answer 31

Unilateral - usually resovles at 6-8 weeks.
if not, surgery required before 6 months

Bilateral - pituitary causes –> refer to paediatricians/endocrinologists for further tests - due to lack of testosterone

Surgical - orchidopexy - a surgery to move a testicle that has not descended or moved down to its proper place in the scrotum

Medical -