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GC Board Exam > Gastrointestinal > Flashcards

Gastrointestinal Flashcards

1
Q

What are the symptoms of VACTERL Association?

A 
vertebral anomalies
anal atresia
cardiac anomalies
tracheoesophageal fistula
renal anomalies
limb anomalies
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2
Q

What anomaly presents as a double bubble on ultrasound?

A

Duodenal atresia

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3
Q

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

A

30%

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4
Q

What is the incidence of duodenal atresia?

A

1/10,000

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5
Q

What is the incidence of malrotation of the intestines?

A

1/500

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6
Q

Malrotation of the intestines is typically (genetic/sporadic)

A

sporadic

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7
Q

What are the three types of atresias?

A

TE (⅓)
Duodenal (10%)
Anal

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8
Q

What is the incidence of anal atresia?

A

1/5000

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9
Q

What percentage of anal atresia is syndromic?

A

> 50%

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10
Q

What three disorders are commonly associated with anal atresia?

A

Cat Eye Syndrome
Townes Brock
VACTERL

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11
Q

Clinical features of Cat Eye Syndrome?

A 
Coloboma of the Iris
Anal atresia with fistula
Heart, renal malformations
Down slanting palpebral fissures
Abnormally formed ears
Normal or near normal development
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12
Q

Etiology of Cat Eye Syndrome

A

tends to be sporadic

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

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13
Q

Clinical features of Townes Brock syndrome

A 
hand and foot anomalies (triphalengeal thumb, bifid thumb, polydactly)
anal atresia
SNHL
renal and cardiac defects
malformed ears
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14
Q

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

A

Cat eye syndrome presents with a coloboma

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15
Q

Etiology of Townes Brock

A

AD, SALL1

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16
Q

What is the M:F ratio of pyloric stenosis?

A

4:1

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17
Q

What is the incidence of gastroschisis?

A

<1/1000

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18
Q

What is the RR of gastroschisis?

A

4%

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19
Q

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

A

10%

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20
Q

Maternal risk factors for gastroschisis

A 
Young mother (<20)
smoking
21
Q

Is gastroschisis typically associated with other chromosomal anomalies?

A

No

22
Q

What differentiates an omphlaocele from an umbilical cyst?

A

The presence of the abdominal contents

23
Q

What is the incidence of omphlocele?

A

1/4000 LB

24
Q

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

A

50%

25
Q

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

A

12-23% (T18,T13 mostly)

26
Q

What are the clinical features of Beckwith-Weideman syndrome?

A

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)

27
Q

What chromosome region is associated with BWS?

A

11p15

28
Q

What is the incidence of diaphramatic hernia?

A

1/2200

29
Q

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

A

60% isolated

40% complex or syndromic

30
Q

What percentage of diaphramatic hernia is caused by chromosomal abnomarlities?

A

15%

31
Q

What chromosomal abnormalities are associated with diaphramatic hernia?

A 
de novo deletion or unbalanced translocation involving 15q24-26
15q25 del
1q41-42 del
8p23 del
tetrasomy 12p
trisomy 18
32
Q

What is the primary problem associated with diaphramatic hernia?

A

pulmonary hypoplasia

33
Q

What determines the prognosis of diaphramatic hernia?

A

How much of the abdominal cavity enters the thoracic cavity

34
Q

Clinical features of Cornelia de Lange Syndrome

A

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

35
Q

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

A

NIPBL (80%)

36
Q

What is Hirshprung disease?

A

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

37
Q

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

A

4:1

38
Q

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

A

16-32%

39
Q

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

A

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

40
Q

What is the most common single gene cause of Hirshprung disease

A

RET, AD

41
Q

Clinical features of Alagille syndrome

A

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

42
Q

incidence of hemochromatosis

A

1/400 caucasians

1/200-250 northern europeans

43
Q

carrier frequency of hemochromatosis

A

1/10

44
Q

What is the most common mutations that causes hemochromatosis?

A

C282Y in HFE
H63D in HFE

2 C282Y = most likely to be symptomatic

45
Q

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

A

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

46
Q

What metabolite is accumulated in wilson’s disease?

A

Copper

47
Q

what are the clinical features of wilson disease

A

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

48
Q

treatments of wilson disease

A

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

GC Board Exam (18 decks)

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