( LDAS ) ?
a. aneurysms of ascending aorta
b. tortuous arteries
c. cleft palate
d. hypertelorism
e. all of the above
7q: patients with mutations in fibrillin-1 gene and fibrillin-2 gene are known to have some features of marfan’s syndrome and some features of osteogenesis imperfecta together with joint contractures . they are classified as a single entity called ?
a. congenital contractural arachnodactyly ( CCA )
b. loeys-dietz aneurysm syndrome
c. Kelley seeg miller syndrome
d. Paget’s disease
8q: all of the following are true about marfan’s syndrome ( MFS ) except ?
a. the incidence of MFS is about 1 in 3000/5000 in most racial and ethnic groups
b. type 1 MFS is more common than type 2 MFS, LDAS, or CCA
c. most variants of MFS are inherited as autosomal recessive traits
d. about one fourth of patients have sporadic new mutations
9q: the ratio of upper segment ( top of head to the top of pubic ramus ) to the lower segment ( top of pubic ramus to the floor ) is usually ?
a. 2 standard deviations below mean for age,race and sex
b. 2 standard deviations above mean for age,race and sex
c. 1 standard deviations below mean for age,race and sex
d. 1 standard deviations above mean for age,race and sex
10q: skeletal changes seen in marfan’s syndrome are ?
a. arachnodactyly
b. pectus excavatum
c. pectus carinatum
d. scoliosis
e. kyphosis
f. all the above
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