Internal Medicine

0521779407-14 CUNY1086/Karliner 0 521 77940 7 June 4, 2007 21:16

Marfan’s Syndrome 953

■short upper body (head to pubis:pubis to floor ratio <0.85)

■kyphoscoliosis

■arachnodactyly (long limbs, fingers); arm span to height ratio >1.05;

thumb sign (distal thumb extends well beyond margin of hand when

placed across palm); wrist sign (thumb and 5th finger overlap around

wrist)

■high-arched palate

■pectus excavatum (hollow chest)

■pectus carinatum (pigeon chest)

■joint laxity

■normal skin texture and elasticity

■ectopic lens, myopia, retinal detachment

■aortic insufficiency murmur; congestive failure

■mitral valve prolapse

tests

■documentation of mutations in fibrillin-1 (FBN-1) gene for research

purposes only

■echocardiography to document aortic insufficiency and monitor

aortic root dilatation

■slit-lamp exam

■extrinsic restrictive ventilatory defect with severe kyphoscoliosis

differential diagnosis

■evaluate for other causes of aortic insufficiency or mitral valve pro-

lapse

■homocystinuria has positive urine cyanide-nitroprusside test

■congenital contractural arachnodactyly lacks eye or cardiac prob-

lems

■marfanoid hypermobility syndrome lacks eye or cardiac problems

and has greater joint hypermobility

■Pts with Ehlers-Danlos types I, II, and III have greater joint hyper-

mobility and normal skeletal proportions

management

What to Do First

■assess aortic root size and severity of aortic insufficiency

General Measures

■avoid athletics or other strenuous activities

■prophylactic antibiotics before dental work or high-risk operations

■braces or surgical correction of scoliosis