226 Marfan’s syndrome
Salient features
Examination
• hands for hypermobile joints and spidery fingers or arachnodactyly; confirmed by:
• thumb sign (Steinberg test; Fig. 226.1): asking the patient to clench his thumb in his fist; the thumb should not exceed beyond the ulnar side of the hand in normal subjects but because of hypermobility and laxity of the joint in Marfan’s disease the entire thumbnail projects beyond the border of the hand
• wrist sign (Walker–Murdoch sign; Fig. 226.2): when the wrist is grasped by the contralateral hand, the thumb overlaps the terminal phalanx of the fifth digit by at least 1 cm in 80% of patients (Arch Intern Med 1970;126:276).
• eyes, for iridodonesis or ectopia lentis (subluxation upwards): the patient may be wearing thick spectacles; blue sclera
• head, for long-headedness: dolichocephalic with bossing of frontal eminences and prominent supraorbital ridges
• palate for high arched palate
• skin for small papules in the neck (Miescher’s elastoma)
• chest for pectus excavatum, cystic lung disease (Thorax 1984;39:780–4)
• heart for mitral valve prolapse, aortic aneurysm and aortic regurgitation
Stay updated, free articles. Join our Telegram channel
Full access? Get Clinical Tree
