Clinical Presentation & Protocol
Patient Usually Complains Of
Patient presents for evaluation of known Marfan syndrome. Reports progressive skeletal changes including increased height, joint hypermobility, and recent onset of back pain. No current complaints of chest pain, palpitations, or visual disturbances. Family history positive for connective tissue disorders.
Clinical Examination Findings
General: Tall, thin habitus, dolichostenomelia. Skeletal: Positive wrist sign (Walker-Murdoch) and thumb sign (Steinberg). Spine: Evidence of thoracic scoliosis with mild kyphosis. Pectus excavatum/carinatum noted. Joints: Generalized ligamentous laxity. Feet: Pes planus.
Treatment Protocol
Orthopedic referral for scoliosis monitoring and bracing if indicated. Physical therapy for core strengthening and joint stabilization. Annual monitoring of skeletal progression. Referral to cardiology for echocardiographic screening of aortic root diameter.