MARFAN SYNDROME

DEFINATION: Marfan syndrome is a spectrum of

disorders caused by heritable genetic defect of
connective tissue that has an autosomal dominant
mode of transmission.
One of the famous instances being that of
President Abraham Lincoln.
The defect itself has been isolated to FBN1 gene
on chromosome 15, bands q15-q23, which codes
for the connective tissue protein ,fibrillin.
Abnormalities in this protein cause distinct
clinical problems of which the musculoskeletal,
cardiac and ocular problems predominate.

Clinical features

The sketeton typically displays multiple

deformities including arachnodactyly,
dolichostenomelia ( long limbes related to
trunk length) and thoracolumber scoliosis.
The shape of the skull and face is
characteristically long and narrow and
commonly suggests the diagnosis of
disease.
Hyperextensibility of joints with habitual
dislocations ,kyphosis and flat feet.
In the cardiovascular system, aortic
dilation , aortic regurgitation , and
aneurisms are the serious clinical
findings.
Mitral valve prolapse requiring valve
replacement can occur.
Other findings include myopia ,
cataracts , retinal detachment , and
superior dislocations of the lens.

Oral manifestations

High arched palatal vault is very prevalent and

may be a constant clinical finding.
Bifid uvula
Malocclusion
In addition, multiple odontogenic cysts of the
maxilla and mandible have occasionally reported
One additional finding sometimes present is
temporomandibular dysarthrosis(fig)

RADIOGRAPHIC FEATURES
Skull radiographs (AP and lateral) may
demonstrate :
-high arched palate
-increased skull height
-enlarged frontal sinus

TREATMENT AND PROGNOSIS

No specific treatment
Management of cardiovascular manifestations
Cardiovascular compromise is the most common
cause of patient death.