Table 2 Clinical profiles of the patients

Cardiovascular

Enlarged aortic diameter or aortic dissection

Y

Y

Mitral valve prolapsed with valve regurgitation

Y

N

Skeletal

Pectus carinatum

N

N

Wrist and thumb signs

Y

Y

Scoliosis of > 20°

N

N

Reduced upper-segment to lower-segment ratio or arm span-to-height ratio > 1.05

N

N

High palate

NA

N

Reduced extension at the elbows

N

N

Joint hypermobility

Y

Y

Ocular

Ectopia lentis

Y

N

High myopia

Y

N

Skin

Striae

Y

N

Pulmonary

Y

NA

Dural

Y

Y

Height (cm)

184

172

Weight (kg)

70

60

Age at presentation (years)

23

46

Sex

Male

Female

Family history

N

N