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SKELETAL MANIFESTATIONS:
• Dolichostenomelia - Overgrowth of the long bones is often
the most obvious manifestation of MFS and may produce a
reduced upper segment: lower segment ratio (US : LS) or an
arm span to height ratio >1.05 times.
• Anterior chest deformity due to excessive rib growthand
pushing sternum either outward-pectus carinatum or inward-
pectus excavatum.
• Thoracolumbar scoliosis.
• Protrusio acetabuli (Inward bulging of acetabulum into pelvic
cavity)
• Pes planus(flat feet)
• Joint hypermobility/contractures
• Arachnodactyly(long and slender fingers)
• Contractures of fingers and elbows
• Craniofacial manifestations- Dolicocephaly(narrow skull)
Enophthalmos(deep set eyes)
• Retrognathia/micrognathia
• Malar hypoplasia (flattening of midface)
• CARDIOVASCULAR MANIFESTATIONS:
• Thickening of atrioventricular valves associated with valvular
prolapse.
• In children with early onset and severe MFS insufficiency of
the mitral valve can lead to congestive heart
failure,pulmonary hypertension and death in infancy.
• Aortic aneurysm, dissection and rupture, principally at the
level of the sinuses of Valsalva (aortic root), remains the most
life-threatening manifestations of MFS.
• OTHER SYSTEMS:
SKIN:
• Stretch marks- pinkish,scar like lesions that later become
white(striae atrophicae)
LUNGS:
• Progressive anterior chest deformity or thoracic scoliosis
• Spontaneous pneumothorax – due to widening of distal air
spaces.
• OCCULAR MANIFESTATIONS:
• Ectopia lentis(Dislocation of the ocular lens)- occurs in
approximately 60-70% of patients.
• Early and severe myopia, flat cornea, increased axial length of
the globe, hypoplastic iris.
• Patients are also predisposed to retinal detachment and early
cataracts or glaucoma.
DIAGNOSIS
• The diagnosis is based on a defined set of clinical criteria
drawn up by an international panel of experts: revised Ghent
nosology for the MFS
MANAGEMENT
• Management focuses on preventing complications and
genetic counseling.
• Regular evaluations for cardiovascular disease, scoliosis, or
ophthalmologic problems to be done.
Mitral valve prolapse:
• Most patients with mitral valve prolapse do not require
treatment unless they have symptoms. If the patient becomes
symptomatic:
o Medication: beta blockers (these reduce blood pressure and
the heart beats with less force) and aspirin (reduces risk of
blood clots)
o Surgery: Surgery is not very common except with severe
prolapse
Valve repair: Valve repair preserves the patient tissue