Answer-- C
Explanation--
MFS is a multisystem disorder. It results from mutations in the fibrillin gene (FBN 1). The gene is located on chromosome 15.
Skeletal system ---
Overgrowth of the ribs, pushing the sternum anteriorly (pectus carinatum) or posteriorly (pectus excavatum).
Overgrowth of arms and legs can lead to an arm span >1.05 times the height or a reduced upper to lower segment ratio.
Arachnodactyly (overgrowth of the fingers).Wrist sign --full overlap of the distal phalanges of the thumb and fifth finger when wrapped around the contralateral wrist. The Steinberg or thumb sign is present when the distal phalanx of the thumb fully extends beyond the ulnar border of the hand when folded across the palm.
Thoracolumbar scoliosis
Pes planus (flat feet)
Although joint laxity or hypermobility is often identified, joints can be normal or even develop contractures
Cardiovascular system---
Thickening of the AV valves
prolapse of the mitral and/or tricuspid valves
Ventricular dysrhythmia Aortic aneurysm and dissection remain the most life-threatening manifestations of MFS
Eye---
Dislocation of lens (ectopia lentis) -- 60-70% of cases -- mostly upward direction
myopia,
Retinal detachment
glaucoma
Respiratory system --
Pectus excavatum or progressive scoliosis leads to a restrictive pattern of lung disease.
Widening of the distal airspaces can predispose to spontaneous pneumothorax (15 %)
Skin-- usually normal but 2/3 rd patient have striae
Back to question 1
Back to Practice Question and Answer--- Foundation of Practice
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