Table 1

Clinical details of 11 consecutive patients affected by predominant EL

OPBMRWTGBJLNSMGVWIBPMZSR
*M = male, F = female; †AS/H = arm span/height ratio; ‡US/LS = upper segment/lower segment ratio.
Abnormal features are highlighted in bold.
Patient
    Age (years)4941565140105265503332
    Sex*MFMMFMFMFMM
    Ectopia lentis family history++++++++
    FBN1 changeR122CN164SR240CR545CR545CS634PC652YA/G 3963IVS6 del T -26IVS62 A+8 to C
Skeletal system
    Height (cm)189163181187170138158184157174185
    Arm span (cm)187167181189166135157197156181197
    AS/H† (normal <1.05)0.991.0211.010.970.980.99 1.07 0.991.04 1.06
    US/LS‡ (normal >0.87) 0.81 0.79 0.931.070.91.030.90.940.92 0.85 0.78
    Pectus carinatum++
    Pectur excavatum+
    Scoliosis+++
    Arachnodactyly+++
    High palate+++++
    Joint hypermobility+++++
Cardiovascular system
    Aortic root dimension (mm)322835 41 3222 40 393725 40
    Mitral valve prolapse+++
Ocular system
    Lens dislocation+++++++++++
    Myopia++++
    Strabismus+
    Glaucoma+
Other manifestations
    Hyperextensible skin++++
    Striae+++++++
    Hernia++