167 - Marfan's syndrome mcqs with answers part 4

16q: all of the following are the major ghent criteria except ?


a. presence of atleast one skeletal abnormalities
b. ectopia lentis
c. dilation of the ascending aorta with or without dissection
d. dural ectasia
e. a blood relative who meets the same criteria with or without DNA diagnosis

answer a. presence of atleast four skeletal abnormalities not one

17q: all of the following are true about the management of marfan’s syndrome patient except ?

a. propranolol or other beta blockers are used to lower BP to delay or prevent aortic dilatation
b. surgical correction of aorta, aortic valve and mitral valve have been successful in many patients
c. patients should be advised of the risks of severe physical and emotional stress and of pregnancy
d. scoliosis tends to be progressive and should be treated by mechanical bracing and physical therapy if greater than 20degrees or by surgery if it is greater than 45 degrees .
e. dislocated lenses definitely require surgical removal

answer e is false because dislocated lenses rarely require surgical removal

18q: fibrillin-1 gene ( FBN1 gene ) is located on which chromosome ?

a. 15
b. 16
c. 17
d. 18

answer a. 15th chromosome

19q: there is a rare but most severe form of MFS that is lethal in neonates . most of the mutations in this form occurs in which exons ?

a. 24-32 nine central exons
b. 16-24 nine central exons
c. 8-16 nine central exons
d. 32-40 nine central exons

answer a. 24-32 nine central exons. over 550 different mutations that have been identified are scattered throughout the 65 coding exons of the gene. most are private mutations ,but about 10% are recurrent new mutations that are largely located in CpG sequences known to be hot spots

20q: other features of MFS which may sometimes associated with the disease are ?

a. striae over the shoulders and buttocks
b. spontaneous pneumothorax
c. inguinal and incisional hernias are common
d. patients are typically thin with little subcutaneous fat but adults may develop centripetal obesity
e. all the above

answer e. all the above