marfan’s syndrome

definition

· heterogenous group of disorders

· generalised disorder of connective tissue

· common findings of

· skeletal changes

· lens dislocation

· cardiovascular disease

epidemiology

· 1 in 10 000

· autosomal dominant

· 25% are new mutations

pathology

· defect in cross-linkage of collagen

· may be defect in alpha-1 chain

· abnormal fibrillar protein

clinical features

· phenotype variable

· not all have Marfanoid habitus

Skeletal

· tall stature

· dolichostenomelia

· disproportionately long and narrow limbs

· arm span exceeds height

· arachnodactyly

· long slender fingers and toes

· bracelet sign

· pectus deformities

· excavatum

· carinatum

· spinal deformities

· scoliosis

· spondylolisthesis

· increased incidence of SUFE

· generalised ligamentous laxity

· pes planus

· patellar or shoulder instability

Ocular

· myopia

· superior dislocation of lens

Cardiovascular

· aortic dilatation and dissection

· aoric incompetence

· mitral valve prolapse

CNS

· dural ectasia

· meningomyelocoele

Other

· high-arched palate

· hernias

radiology

· metacarpal index

· length of MCs II-V / width of MCs II-V > 8.5

differential diagnosis

· homocysteinuria

· inborn error of metabolism

· methionine

· Marfanoid habitus

· inferior lens dislocation

Medical complications

· death from aortic dissection

orthopaedic complications

Scoliosis

· treat as idiopathic