Hereditary Quiz

Patient with tall and slender build presents with tearing substernal chest pain that radiates to back with BP of 180/98 mm Hg in right arm and 104/65 mmHg in left arm. What  would you expect in this patient based on the clinical presentation?

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B.
C.
D.

This patient has dark pigmentation in his eyes and cartilage as seen in the images below. Also has a history of darkening of urine on standing. What is the diagnosis?

 

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B.
C.
D.

This patient with hyper mobile joints and hyper extensible skin finding due to a collagen defect. What is the diagnosis?

 

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B.
C.
D.

This man and his brother developed heart failure as young adults. What is the likely cause of their heart failure?

 

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B.
C.
D.

This patient shown in the image presented to the clinic with multiple firm, slow-growing nodules on the tongue and was found to have an elevated calcitonin level. He is tall, slender built and has increased arm span. What is the diagnosis?

 

 

 

 

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B.
C.
D.

The patient shown in the image below complains of recurrent episodes of epistaxis. On further investigation she is found to have GI bleeding as well. What could be the diagnosis?

 

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B.
C.
D.

What additional finding might be present in this patient?

 

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B.
C.
D.
E.

What finding is demonstrated in the image?

 

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B.
C.
D.

What is the most likely diagnosis?

 

 

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B.
C.
D.

What additional finding might be expected in this patient?

 

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B.
C.
D.

What physical finding is demonstrated in this image?

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B.
C.

What valvular heart disease might you expect in this patient?

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B.
C.
D.

Which of the following ocular conditions might be present in this patient?

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B.
C.
D.

Which of the following murmurs might be heard in this patient?

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C.
D.

Which of the following MEN syndromes is associated with these physical findings?

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B.
C.
D.

Which of the following thyroid cancers might occur in this patient?

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B.
C.
D.

What is the inheritance of the disease in this patient?

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B.
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D.

This patient has small, yellowish, popular lesions present on the neck. Which of the following is the most likely diagnosis?

 

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B.
C.
D.

This patient has small, yellowish, popular lesions present on the neck. Which of the following eye changes would be present?

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B.
C.
D.

What physical finding is demonstrated in these images?

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B.
C.
D.

Which of the following valvular heart diseases is expected in this patient?

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B.
C.
D.

This patient presents to the clinic with many non-painful skin lesions over his whole body. Which ocular finding might be expected?

 

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B.
C.
D.

This patient had renal cancer at a young age. Assuming that the right side of the patient’s body is normal, what would be the most likely diagnosis?

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B.
C.
D.

Which of the following metabolic abnormalities is common in these patients?

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B.
C.
D.

A patient’s urine gets darkened when left exposed to open air. What is the most likely diagnosis?

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B.
C.
D.

A patient’s urine is kept in open air for 30 minutes, and is imaged as above. This patient is likely to develop which complication later in life?

 

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B.
C.
D.

This patient came to clinic with asymptomatic ill-defined dark patches as shown. Which of the following bedside tests can be used to confirm the diagnosis of ochronosis?

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B.
C.
D.

This patient came to clinic with asymptomatic ill-defined dark patches as shown. Which of the following cardiac conditions might be expected?

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B.
C.
D.