Assignment: diagnosis of Marfan syndrome

Assignment: diagnosis of Marfan syndrome

Assignment: diagnosis of Marfan syndrome

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Question 18.                     

A 6-year-old girl with a diagnosis of Marfan syndrome is being assessed at a community health clinic. Which of the following assessments would be the health care professional’s lowest priority?

A test of the child’s visual acuity

A musculoskeletal assessment

Tests of kidney function

Cardiovascular assessment

Question 19.                     

A new older female patient at a long-term care facility has a diagnosis of type 1 neurofibromatosis (NF-1). As part of the intake assessment protocol for the facility, the clinical educator is teaching the care staff about the diagnosis. Which of the following statements most accurately conveys an aspect of neurofibromatosis?

“The neurofibroma lesions are unsightly for the patient, but they are not painful.

“Her diagnosis puts her at higher risk of developing a malignant neoplasm.”

“She is living with an example of an autosomal recessive disorder.”

“The patient is likely to be photosensitive as a result of the disease.”

Question 20.                     

As part of an orientation to a genetic counseling practice, a group of medical students is differentiating between autosomal recessive disorders and autosomal dominant disorders. Which of the following statements is true of autosomal recessive disorders?

They can manifest when present in one or both gene pairs.

There is a one in two chance of an affected child in each pregnancy with an affected mother.

They tend to have a more uniform symptomatology than autosomal dominant disorders.

The associated disorders are usually attributable to abnormalities in structural proteins.

 

Question 21.                     

Which of the following pregnant women has most likely encountered the greatest increase in the risk that her child will have a fetal anomaly?

A woman with diagnoses of syphilis and cirrhosis of the liver

A woman who has herpes simplex and recently recovered from endocarditis

A woman with chronic obstructive pulmonary syndrome and tuberculosis

A woman with diagnoses of insulin-dependent diabetes mellitus and peripheral neuropathy

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