Nokea
Blau syndrome is associated with
- A. Amyloidosis
- B. Sarcoidosis
- C. Hemochromatosis
- D. Myeloma
Correct Answer: B
Rationale: Blau syndrome is associated with sarcoidosis
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Recognized features in Ehlers-Danlos syndrome include:
- A. Mutation in fibrillin gene
- B. Short stature
- C. Keratoconus
- D. Easy scarring
Correct Answer: D
Rationale: Easy scarring: Ehlers-Danlos syndrome is a connective tissue disorder characterized by hyperelastic skin, joint hypermobility, and easy bruising and scarring.
A 6-month-old presents with tachycardia, tachypnea, and poor feeding for 3 months. Physical examination reveals a continuous machinery murmur and a wide pulse pressure with a prominent apical impulse. The most likely diagnosis is
- A. pulmonic stenosis
- B. aortic stenosis
- C. ventricular septal defect
- D. patent ductus arteriosus
Correct Answer: D
Rationale: Patent ductus arteriosus causes a continuous machinery murmur and wide pulse pressure.
Regarding coarctation of aorta
- A. Associated with Turner's syndrome
- B. Commonest is preductal type
- C. Radio femoral delay is a feature
- D. Systolic BP in lower limb is higher than in upper limb
Correct Answer: C
Rationale: Radio-femoral delay is a characteristic feature of coarctation of the aorta due to the obstruction in blood flow.
Possible causes of isosexual precocious puberty in a 6-year-old girl are:
- A. McCune-Albright syndrome
- B. Congenital adrenal hyperplasia (CAH)
- C. Ovarian tumour
- D. Hypothalamic hamartomas
Correct Answer: D
Rationale: Hypothalamic hamartomas can cause precocious puberty by secreting gonadotropin-releasing hormone (GnRH) prematurely.
Hereditary angioneurotic oedema (HANE):
- A. Deficiency of CI esterase occurs
- B. Can present as recurrent abdominal pain
- C. C4 is increased
- D. Androgen agonists are helpful in management
Correct Answer: A
Rationale: Deficiency of CI esterase occurs