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Marfan’s Syndrome

 

synonyms:

Marfan's Syndrome ICD-9

  • 759.82 Marfan's syndrome

Marfan's Syndrome Etiology / Epidemiology / Natural History

  • Autosommal Dominant, 25% result from sporadic de novo gene mutation.
  • defect in fibrillin

Marfan's Syndrome Anatomy

  • Marfan syndrome is caused by mutations the FBN1 gene.

Marfan's Syndrome Clinical Evaluation

  • Arachnodactyly (long slender fingers, claw or hammer toes)
  • pectus deformities (pectus carinatum / excavatum
  • scoliosis(50%)
  • cardiac valves
  • ocular(superior lens dislocation 60%)
  • spondylolisthesis,
  • Joint laxity
  • Reduced upper to lower segment ratio (long legs)
  • Arm span greater then height
  • Reduced extension at elbows
  • Pes Planus
  • Dural ectasia
  • Highly arched palate with crowding of the teeth
  • Facial appearance (dolichocephaly, malar hypoplasia, enopthalmos, retrognathia, down-slanting palpebral fissures

Marfan's Syndrome Xray / Diagnositc Tests

Marfan's Syndrome Classification / Treatment

  • Anyone suspected of having undiagnosis Marfan's syndrome should be referred for appropriate diagnosis and management. Beta-blockers, activity restrictions etc. Best managed by multidisiplinary team.
  • Scoliosis bracing is ineffective
  • Scoliosis with kyposis=ant/post fusion
  • Increased risk of sudden cardiac death during sport from aortic dissection.
  • Orthopaedic Management
  • Cardiac Management
  • Ocular Management

Marfan's Syndrome Associated Injuries / Differential Diagnosis

  • Beals syndrome (Congenital contractural arachnodactyly)
  • Homocystinuria
  • Weill-Marchesani syndrome

Marfan's Syndrome Complications

  • Sudden dardiac death (aortic root dissection

Marfan's Syndrome Follow-up Care

  • Generally should be referred to mutlidisciplinary team for management.

Marfan's Syndrome Review References

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