Larsen syndrome

From WikiLectures

Larsen syndrome
Hands of a patient with Larsen syndrome
Legs of a patient with Larsen syndrome

Larsen syndrome is a very rare syndrome with hyperlaxity (hypermobility) of joints and ligaments characterized immediately after birth:

  • face changes – flattening of the face, widened and flattened root of the nose, wide-set eyes, hypertelorism
  • multiple joint dislocations – mainly dislocation of the knee joints
  • cervical hyperkyphosis – there is a risk of damage to the spinal cord

Patogenesis[edit | edit source]

  • generalized mesenchymal disorder
  • autosomally inherited form is caused by a mutation of the FLNB gene on chromosome 3 (3p14.3)

Clinical picture[edit | edit source]

  • changes in the face, flattening of the nose
  • hyperextension of the lower limbs, rigid bilateral pes equinovarus, hip joints bilaterally luxated and highly mobile (due to significant joint laxity), flexion contracture of the elbow
  • typical hand changes – long fingers mount on short metacarpals, distal joint of thumb blade-shaped
  • spinal changes – cervical kyphosis with progressive instability, more distally kyphoscoliosis
  • congenital defects of the heart, aorta, trachea, larynx
  • normal intelligence

Therapy[edit | edit source]

  • prevent cervical spinal cord compression by posterior fusion
  • surgical (or conservative) treatment of luxation of knee joints, hip joints and finally pes equinovarus


Links[edit | edit source]

Related articles[edit | edit source]

Used literature[edit | edit source]

  • DUNGL, P.. Ortopedie. 1. edition. Grada Publishing, 2005. ISBN 80-247-0550-8.