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Genetic Disorders
 
 

Marfan's syndrome

 
 
 
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On this page:Manifestations

Overview

Marfan syndrome occurs due to one of many mutations in the gene encoding the extracellular matrix protein fibrillin 1.

Manifestations

  • Clinical Features

  • Musculoskeletal

  • Wrist sign: when the patient wraps their thumb and fifth finger around their opposite wrist, the thumb and fifth finger overlap
  • Thumb sign: when the patient adducts their thumb, it extends beyond the ulnar border of the palm
  • Pectus carinatum: forward angulation of the sternum
  • Hindfoot deformities - particularly hindfoot valgus
  • Pes planus: flat foot
  • Scoliosis / lumbar kyphosis
  • Reduced upper segment / lower segment ratio (with the pubic symphysis separating the upper and lower segments)
  • Increased arm span / height ratio (i.e. arms longer than the patient’s height)
  • Facial

  • Dolichocephaly: abnormally long head (anterior-posterior)
  • Enophthalmos: posterior displaceemnt of the eye within the orbit
  • Downslanting palpebral fissures (the line between the medial canthus and the lateral canthus of the eye)
  • Malar hypoplasia: underdeveloped cheek bones
  • Retrognathia: posterior displacement of the mandible
  • Other

  • Reduced elbow extension
  • Skin striae
  • Complications of Marfan Syndrome

  • Cardiovascular

  • Dilatation of the proximal aorta
  • Aortic root dissection
  • Mitral valve prolapse
  • Ocular

  • Ectopia lentis: lens displacement (pathognomonic)
  • Myopia: nearsightedness
  • Musculoskeletal

  • Protrusio acetabuli: displacement of the medial aspect of the femoral head beyond the ilio-ischial line
  • Other

  • Pneumothorax
  • Dural ectasia: ballooning of the dura in the spine resulting in enlargement of the neural canal
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