Gastrointestinal

Question 1

What are the symptoms of VACTERL Association?

Answer 1

vertebral anomalies
anal atresia
cardiac anomalies
tracheoesophageal fistula
renal anomalies
limb anomalies

Question 2

What anomaly presents as a double bubble on ultrasound?

Answer 2

Duodenal atresia

Question 3

Duodenal atresia is present in what percent of fetuses with Down Syndrome?

Answer 3

30%

Question 4

What is the incidence of duodenal atresia?

Answer 4

1/10,000

Question 5

What is the incidence of malrotation of the intestines?

Answer 5

1/500

Question 6

Malrotation of the intestines is typically (genetic/sporadic)

Answer 6

sporadic

Question 7

What are the three types of atresias?

Answer 7

TE (⅓)
Duodenal (10%)
Anal

Question 8

What is the incidence of anal atresia?

Answer 8

1/5000

Question 9

What percentage of anal atresia is syndromic?

Answer 9

> 50%

Question 10

What three disorders are commonly associated with anal atresia?

Answer 10

Cat Eye Syndrome
Townes Brock
VACTERL

Question 11

Clinical features of Cat Eye Syndrome?

Answer 11

Coloboma of the Iris
Anal atresia with fistula
Heart, renal malformations
Down slanting palpebral fissures
Abnormally formed ears
Normal or near normal development

Question 12

Etiology of Cat Eye Syndrome

Answer 12

tends to be sporadic

tetrasomy 22pter-22q11 (supernumerary chromosome) – do a karyotype

Question 13

Clinical features of Townes Brock syndrome

Answer 13

hand and foot anomalies (triphalengeal thumb, bifid thumb, polydactly)
anal atresia
SNHL
renal and cardiac defects
malformed ears

Question 14

What is the best way to distinguish between Townes Brock and Cat Eye Syndrome?

Answer 14

Cat eye syndrome presents with a coloboma

Question 15

Etiology of Townes Brock

Answer 15

AD, SALL1

Question 16

What is the M:F ratio of pyloric stenosis?

Answer 16

4:1

Question 17

What is the incidence of gastroschisis?

Answer 17

<1/1000

Question 18

What is the RR of gastroschisis?

Answer 18

4%

Question 19

What is the risk for fetal demise in the third trimester with gastroschisis?

Answer 19

10%

Question 20

Maternal risk factors for gastroschisis

Answer 20

Young mother (<20)
smoking

Question 21

Is gastroschisis typically associated with other chromosomal anomalies?

Answer 21

No

Question 22

What differentiates an omphlaocele from an umbilical cyst?

Answer 22

The presence of the abdominal contents

Question 23

What is the incidence of omphlocele?

Answer 23

1/4000 LB

Question 24

What percentage of babies with omphalocele also have other associated malformations?

Answer 24

50%

Question 25

What percentage of cases of omphalocele are associated with chromosomal abnormalities?

Answer 25

12-23% (T18,T13 mostly)

Question 26

What are the clinical features of Beckwith-Weideman syndrome?

Answer 26

large for GA hemihypertrophy macroglossia hypoglycemia (often needs medical attention shortly after birth) wilms tumor (10%, US screening no longer necessary after age 8, AFP stops after age 4)

Question 27

What chromosome region is associated with BWS?

Answer 27

11p15

Question 28

What is the incidence of diaphramatic hernia?

Answer 28

1/2200

Question 29

What percetage of diaphramatic hernia is isolated vs. complex/syndromic?

Answer 29

60% isolated | 40% complex or syndromic

Question 30

What percentage of diaphramatic hernia is caused by chromosomal abnomarlities?

Answer 30

15%

Question 31

What chromosomal abnormalities are associated with diaphramatic hernia?

Answer 31

``` de novo deletion or unbalanced translocation involving 15q24-26 15q25 del 1q41-42 del 8p23 del tetrasomy 12p trisomy 18 ```

Question 32

What is the primary problem associated with diaphramatic hernia?

Answer 32

pulmonary hypoplasia

Question 33

What determines the prognosis of diaphramatic hernia?

Answer 33

How much of the abdominal cavity enters the thoracic cavity

Question 34

Clinical features of Cornelia de Lange Syndrome

Answer 34

IUGR (characterised by pre and post natal growth failure) chracteristic facies (anteverted nares, long philtrum, thin upper lip, synophyrs, low anterior hairline) high arched palate/CL - 30% upper limb anomalies - 25% ID congenital heart defects (25%) GI problems (1% diaphramatic hernia, 26-83% GERD) renal abnormalities

Question 35

What is the most common genetic cause of Cornelia de Lange syndrome

Answer 35

NIPBL (80%)

Question 36

What is Hirshprung disease?

Answer 36

abnormality of the innervation of the large intesting (doesn't move contents of the intestines properly)

Question 37

What is the M:F ratio of cases of hirshprung disease?

Answer 37

4:1

Question 38

What percentage of individuals with hirshprung disease have other congenital anomalies?"

Answer 38

16-32%

Question 39

What percentage of cases of Hirshrung disease are caused by chromosomal abnormalities? What are they?

Answer 39

12% Down Syndrome Multiple microdeletions - all individually rare so do a microarray

Question 40

What is the most common single gene cause of Hirshprung disease

Answer 40

RET, AD

Question 41

Clinical features of Alagille syndrome

Answer 41

paucity or atresia of the intrahepatic bile ducts (leads to liver insufficiency) pulmonic valvular and peripheral arterial stenosis dysmorphic facies DD

Question 42

incidence of hemochromatosis

Answer 42

1/400 caucasians | 1/200-250 northern europeans

Question 43

carrier frequency of hemochromatosis

Answer 43

1/10

Question 44

What is the most common mutations that causes hemochromatosis?

Answer 44

C282Y in HFE H63D in HFE 2 C282Y = most likely to be symptomatic

Question 45

What screening is needed to determine if someone has progressed to clinical hemochromatosis?

Answer 45

Hemalogical testing Fe and transferrin saturation liver biopsy to determine the level of hepatic iron storage

Question 46

What metabolite is accumulated in wilson's disease?

Answer 46

Copper

Question 47

what are the clinical features of wilson disease

Answer 47

copper accumulation in the liver - jaundice, hepatitis, chronic liver disease movement disorders or rigid dystonia psychiatric manifestations - depression, phobias, compulsive behaviours, agression, antisocial behaviours Kayser-Fliesher rings in the eyes

Question 48

treatments of wilson disease

Answer 48

copper chelating agents restriction of food high in copper (shellfish, chocolate, mushrooms, nuts) antioxidants liver transplant