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Friday, August 31, 2012

Marfan's syndrome mnemonics and clinical features

Very easy and good Marfan's Syndrome mnemnics

MARFAN'S syndrome
M 

  • Micro fibrillin protein [ Fibrillin 1 ]
  • Mitral valve prolapse
  • Mental retardation is not present *
  • Myopia due to upward dislocation of Lense [ B/L ectopic lentis ]

A = Aortic root dilatation [ Can cause aortic dissection & aneurysm ]
        Aortic regurgitation
R = Retinal detachment
F = Fibrillin 1 gene
        Fifteen [ Chromosome 15 is involved ]
        Flat feet
         [P= Pectus excavatum ]
            [H= High arched palate, Hammer toes ] [ Remember as MARPHANS Instead of MARFAN'S ]
A = Arachnodactyly
         Astigmatism
         Air in lungs [ Pneumothorax ]-> Pain, SOB, Cyanosis
N = Nitroprusside test -Negative **
        Nearsightedness
S = Subluxation of Lens [ Upward dislocation of Lense or Superotemporal dislocation] ***
       Scoliosis
       Speech disorders due to High arched palate & small jaws
       Sleep apnea
       Spinal Cord= Dural ectasia [ Widening of ballooning of dural sac surrounding the spinal cord ]


Note:
Differentiate from Homocysteinuria

   * = Mental retardation is present in Homocysteinuria
 ** = Urine Cyanide Nitruprusside test positive in Homocysnteinuria
*** = Downward dislocation of Lense in Homocysteinuria [ Inferonasal dislocation ]
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