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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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