Table 1 of Vanita, Mol Vis 2007; 13:2035-2040.


Table 1. Clinical evaluation of six affected family members

Affected family members had isolated bilateral ectopia lentis. Other characteristic manifestations of Marfan syndrome in the integument, skeleton, and cardiovascular system were absent. Abbreviations: R/E: right eye; L/E: left eye; Tn: tension; +: present, -: absent.

            Patient ID
    (as indicated in Figure 1)         II-7      II-11      III-31       III-36       III-37     III-42
----------------------------------   --------   --------   --------   ------------   --------   ---------
Age (Years)                             51         42         33           23           21         18

Sex                                     M          F          M            F            F          F

Ocular system

(i)    Ectopia lentis                   +          +          +            +              +          +
(ii)   Myopia                        -1.0 R/E   -4.0 R/E   -3.5 R/E   Operated       -1.0 R/E   -0.75 R/E
                                     -1.5 L/E   -0.5 L/E   -3.5 L/E   for ectopia    -1.0 L/E   -2.5 L/E
                                                                      lentis
(iii)  Abnormally flat cornea           -          -          -            -            -          -
(iv)   Early development of             -          -          -            -            -          -
       nuclear cataract
(v)    Strabismus                       -          -          -            -            -          -
(vi)   Hypoplastic iris or              -          -          -            -            -          -
       ciliary muscle
(vii)  Glaucoma                       TN 13      Tn 16      Tn 12      Tn 14          Tn 14      Tn 16
                                         14         12         12         12             11         17

Cardiovascular system

(i)    Aortic root dimension (mm)      32.9       20.0       35.0       21.1           26.1       23.6
       (Normal Range 20-37 mm)
(ii)   Mitral valve prolapse          Normal     Normal     Normal     Normal         Normal     Normal
(iii)  Dilation of pulmonary          Normal     Normal     Normal     Normal         Normal     Normal
       artery
(iv)   Dilation or dissection of      Normal     Normal     Normal     Normal         Normal     Normal
       descending thoracic or
       abdominal aorta

Skeletal system

(i)    Height (H; cm)                 182.8      157.6      183        169            150        174
(ii)   Arm span (AS; cm)              189        165        187        177            156        178.5
(iii)  AS/H (normal <1.05)            1.03       1.04       1.02       1.04           1.04       1.02
(iv)   Pectus carinatum                 -          -          -          -              -          -
(v)    Pectus excavatum                 -          -          -          -              -          -
(vi)   Scoliosis                        -          -          -          -              -          -
(vii)  Arachnodactyly                   -          -          -          -              -          -
(viii) High palate with dental          -          -          -          -              -          -
       crowding
(ix)   Joint hypermobility              -          -          -          -              -          -
(x)    Characteristic face (Long        -          -          -          -              -          -
       narrow head, hollow cheeks,
       hollow eyed, recessed or
       protruding jaw)
(xi)   Flat foot                        -          -          -          -              -          -

Other manifestations

(i)    Hyperextensible skin             -          -          -          -              -          -
(ii)   Striae                           -          -          -          -              -          -
(iii)  Hernia                           -          -          -          -              -          -

Vanita, Mol Vis 2007; 13:2035-2040 <http://www.molvis.org/molvis/v13/a230/>
©2007 Molecular Vision <http://www.molvis.org/molvis/>
ISSN 1090-0535