GI/Endo/Kidney

Question 1

[Gen/GI/Obesity]

Which syndrome?

Obesity
Retinitis pigmentosa
Hypogenitalism
Polydactyly
Intellectual disability
Cystic dysplasia of Kidney

Answer 1

Bardet-Biedl syndrome

Question 2

[Gen/GI/Alagile]

Which syndrome?
JAG1 (95%)
or
NOTCH2 (2%)

Answer 2

Alagille syndrome

Question 3

[Gen/GI/Alagile]

Pattern of inheritance of Alagille syndrome?

Answer 3

Autosomal dominant
Inherited (40%), De novo (60%)

Question 4

[Gen/GI/Alagile]

Major anomalies for Alagille syndrome? (4)

Answer 4

1. Bile duct paucity
2. Pulmonary valve stenosis
3. Posterior embryotoxon
4. Butterfly vertebrae

Question 5

[Gen/GI/Alagile]

Facial dysmorphic features for Alagille syndrome (4)

Answer 5

1. Pointed chin
2. Bulbous nose
3. Deep set eyes
4. Prominent forhead

Question 6

[Gen/GI]

Name of anomaly?
Name of syndrome?

With bile duct paucity

Answer 6

Posterior embryotoxon
Alagille syndrome (del 20p12)

Question 7

[Gen/Neph]

Which syndrome?

Infant onset nephrotic syndrome, mesangial sclerosis
XY gonadal dysgenesis
Wilms tumor

Answer 7

Denys-Drash syndrome

Question 8

[Gen/Neph]

Diagnosis?

Renal disease progresses to ESKD
Dystrophic nails
Hypoplasia or absence of the patellae, elbows, iliac horns

Answer 8

Nail-Patella syndrome

Question 9

[Gen/GI]

Main genetic cause of Hirschsprung disease?

Answer 9

RET
(50% of familial HD
15-20% of sporadic)