Larsen syndrome

The Larsen syndrome, also Rotter - Erb syndrome is a hereditary connective tissue disorder with multiple dislocations and skeletal dysplasia. First description was by Rotter and Erb 1948, the disease is born in 1914, named after the American orthopedic surgeons Loren Joseph Larsen, who published a description in 1950.

It is an autosomal dominant inherited disease. The incidence is estimated at 1:100 000 births.

Clinic

Diagnostic indicators are:

  • At birth, existing dislocations of multiple joints: hips, knees, elbows
  • Craniofacial anomalies with sunken nasal bridge, hypertelorism, flat face
  • Cleft palate, clubfoot in 50 %
  • Radiologically broad terminal phalanges, scoliosis of the upper cervical spine, possibly with segmentation, accessory ossification center at the heel bone, supernumerary carpal bones.
  • Respiratory disorders.

Furthermore, cardiovascular disorders have been described.

Differential Diagnosis

Clinically Adjoining is:

  • Ehlers -Danlos syndrome
  • Arthrogryposis multiplex congenita

Differential diagnosis must be delimited by the X-ray findings:

  • Oto - palato - digital syndrome I.
  • Frontometaphysäre dysplasia.
  • Spondylo -epi- metaophysäre dysplasia with Gelenklaxizität and kyphoscoliosis.

Diagnostics

Already prenatally, the diagnosis is adjustable.

After the birth of an x-ray is required in addition to the documentation of the extent of dislocations by ultrasound to distinguish the differential diagnoses listed.

Treatment

A causal therapy is not possible. The Treat symptomatically occurs, depends on the extent of malocclusions. Problems with anesthesia can occur due to the instability of the cervical spine.

Medical diagnosis Acrocephalosyndactylia Accessory bone Ehlers–Danlos syndrome
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