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Larsen syndrome

Larsen syndrome (LS) is an extremely rare disorder characterised by many features including:

It is often classified as a type of osteochondrodysplasia.

Epidemiology

The estimated incidence is thought to be at ~ 1 in 100,000 people. There may be an increased female predilection.

Pathology

Genetics

There can be significant genetic heterogeneity. It is usually inherited as an autosomal dominant fashion while some autosomal recessive forms have also been described. The autosomal dominant form of Larsen syndrome is thought to be due to mutations in a gene called LAR1, on the short arm of chromosome 3.

Etymology

The condition was first described in a 1950 journal report by L. J. Larsen, et al.

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