Free STEP2 Exam Braindumps (page: 60)

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An 8-year-old girl presents for a checkup. She is new to your practice. The mother states that she has always been small for her age; otherwise, she has been well. She is short and has a height age of 4 years, 4 months. You note some abnormalities in her general appearance as shown in the figure.



Which of the following is the most likely diagnosis?

  1. Marfan syndrome
  2. Noonan syndrome
  3. trisomy 21
  4. Turner syndrome
  5. Williams syndrome

Answer(s): D

Explanation:

Patients with Turner syndrome have a 45,X karyotype. The classic physical features are illustrated in this case. Patients have short stature, a webbed neck, ptosis, triangular faces, prominent brow, hypertelorism, low-set ears, and pectus excavatum



A 12-year-old boy comes to the clinic for a sports physical. He is new to your practice. He comes with his foster mother, who states that he was recently placed in her care because of his mother's problems with drug abuse. Although a complete medical history is not available, she knows that he has not received regular care. He does not have any chronic medical problems. She also knows that his father died of heart disease when he was 35. On physical examination, the boy's height is greater than the 95th percentile. His arm span exceeds his height.
Which of the following is the most likely cause of his tall stature?

  1. Ehlers-Danlos syndrome
  2. Kleinfelter syndrome
  3. Marfan syndrome
  4. Noonan syndrome
  5. Williams syndrome

Answer(s): C

Explanation:

Marfan syndrome is a genetic disorder of connective tissue. It is transmitted in an autosomal dominant manner. Patients have tall stature and skeletal disproportion, where the arm span exceeds the height.
Other important clinical features include subluxation of the ocular lens which occurs in 5080% of patients.
Progressive dilatation of the aortic root and ascending aorta can lead to dissection or rupture.



A 12-year-old boy comes to the clinic for a sports physical. He is new to your practice. He comes with his foster mother, who states that he was recently placed in her care because of his mother's problems with drug abuse. Although a complete medical history is not available, she knows that he has not received regular care. He does not have any chronic medical problems. She also knows that his father died of heart disease when he was 35. On physical examination, the boy's height is greater than the 95th percentile. His arm span exceeds his height.

As you continue your physical examination, you remember that congenital heart disease is common in this particular syndrome. Which of the following is the most likely congenital heart defect in patients with this syndrome?

  1. supravalvular aortic stenosis
  2. AV canal defects
  3. coarctation of the aorta
  4. pulmonary valvular stenosis
  5. mitral valve prolapse

Answer(s): E

Explanation:

Marfan syndrome is associated with mitralvalve prolapse and aortic root dilatation.



A17-year-old girl comes to the clinic with several weeks of joint pain and rash. The joint pain is most prominent in the hands. She states that the pain is most severe in the morning and tends to improve over the day. She has noted some swelling of her fingers. She has also had a rash on her face that becomes more prominent when she is outdoors. She states that sunlight tends to bother her eyes. On further questioning, she states that she has not felt well for several months. She has had intermittent fever, has been more tired than usual, and has lost weight although she has not been restricting her diet. On physical examination, she looks tired. She has lost 5 lbs since her last visit 1 year ago. She has an erythematous rash on her cheeks. She has several shallow ulcers in her mouth. She has fusiform swelling of her fingers and pain with movement of her fingers.

Which of the following is the most likelydiagnosis?

  1. systemic lupus erythematosus (SLE)
  2. dermatomyositis
  3. juvenile rheumatoid arthritis
  4. rheumatic fever
  5. Lyme disease

Answer(s): A

Explanation:

SLE is an autoimmune disorder that affects multiple organs. The diagnosis is based on the presence of four or more major criteria. These include malar rash, oral ulcers, arthritis, and photosensitivity. This patient has all of these symptoms, as well as the systemic symptoms often seen at presentation. The disorder is predominately a disease of women and, in the pediatric population, is a disease of adolescence. Chronic renal disease is an important and common cause of morbidity and mortality among patients with SLE.






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