MCQs In Syndromes

Q 1 -2 :

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. 

Q 1: 

Which of the following is the most likely cause of his tall stature?

(A) Ehlers-Danlos syndrome

(B) Kleinfelter syndrome

(C) Marfan syndrome

(D) Noonan syndrome

(E) Williams syndrome

Q2:

 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?

(A) supravalvular aortic stenosis

(B) AV canal defects

(C) coarctation of the aorta

(D) pulmonary valvular stenosis

(E) mitral valve prolapse


Q 1 :

(C) 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 50–80% of patients.

Progressive dilatation of the aortic root and ascending aorta can lead to dissection or rupture.

Q 2:

 (E) Marfan syndrome is associated with mitral valve prolapse and aortic root dilatation.