Leri Weill Dyschondrosteosis

November 2, 2009 by Dr Arun Pal Singh  
Filed under Pediatric Disorders


Leri Weill Dyschondrosteosis is a type of dysplasia associated with Madelung deformity. It is a form of mesomelic dwarfism and was first described by Leri and Weill in 1929. Leri Weill dyschondrosteosis is characterized by

  • Variable short stature
  • Short forearms,
  • Tibial/fibular shortening.

The height of these patients is usually is less than 25th percentile. The features become more  pronounced clinically during adolescence.

No other abnormalities are commonly associated.

Forearm shortening is  bilateral and appears almost identical to that in primary MD. One of the differentiating features is that  that the proximal radius is involved in patients with Leri Weill dyschondrosteosis whereas it is  not involved in primary Madelung deformity.


Both dyschondrosteosis and Madelung deformity are transmitted in an autosomal dominant fashion and the diseases are more predominant in  females.

This condition needs to differentiated in bilateral Madelung deformity. Many children with unilateral and bilateral Madelung deformity have normal stature and no other characteristic of dyschondrosteosis.

It apears that while they may be related but are separate entities.  In primary Madelung deformity without Leri Weill dyschondrosteosis the height of the child is above the 25th percentile in height and there would be no family  history of dyschondrosteosis.

A patient who is less than 5 feet tall at skeletal maturity with involvement of the proximal radius with relatively short tibia and fibula is likely to have Leri Weill dyschondrosteosis.

Related posts:

  1. Madelung Deformity
  2. Skeletal Dysplasias Causing Short Limbs
  3. Types of Dwarfism
  4. Achondroplasia
  5. Tibia Vara – Xray Showing Varus Deformity In Both Tibia

Comments

3 Responses to “Leri Weill Dyschondrosteosis”
  1. donna says:

    My daughter , 13, gymnast was diagnosed with Madelung’s deformity.
    The bone is sticking out and you can move and push on it and it pushes down and up.
    She pounds on the wrist with gymnastics as she is a high level competitor.
    Can you tell me if you know a doctor who specializes in this? We are meeting wonderful
    hand surgeons’ but they don’t know much about it and have not performed any surgery for it.
    I want the guru guy/gal that knows this deformity any help would be appreciated.

    thanks

    Dr Arun Pal Singh Reply:

    @donna,

    It would help if you specify your location or area you are in.

    May be then some body in this thread may help you.

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  1. [...] Dysplastic: Associated with bone dysplasias like multiple hereditary osteochondromatosis, Ollier disease, achondroplasia, multiple epiphysial dysplasias, and the mucopolysaccharidoses . This type can also be seen secondary to sickle-cell disease, infection, tumor, and rickets. The most important dysplasia associated with MD, however, is Leri-Weill dyschondrosteosis. [...]



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