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.
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About Dr Arun Pal Singh
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:
January 12th, 2010 at 10:03 am
@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.
I am a 36 year old female with bi- lateral madelung deformity. I am 5’9″ how ever was diagnosed with lerri- wills disconderosis around age 18-19. This didn’t make sense to me even then. I have since I think more correctly been diagnosed with Ehlers Danlos hypermobile. After having 3 strokes in nov ’08 it’s is now thought I have some sort of vascular / hypermobile hybrid of some kind. In the last year or so I have developed an excruciating left hip problem. I was told it was a femoral (a ) hip impingement. Could this be an extending of the SHOX gene. Or part of a disconderosis even though I’m relatively tall. I know some forms of dwarfism have sevear hip problems. The surgons in Dallas are scared to touch me and although I have had chronic pain since about age 12, I must find an answer for this hip. It has me in a wheel chair for more than very short trips, and almost house bound. I know this combo of problems is almost totally unique. And I have had to do much of the the research personally all my life to get care. And of course have many secondary issues that complicate matter even further. I can theroize on this but have no way to find the answer and looking for some help.
Thank you for anything you may have to offer
Sinserally
Anna
Anna
Dr Arun Pal Singh Reply:
August 28th, 2010 at 9:38 pm
@Anna Newman,
How Can I Help You? I cannot advise you as physician because that would need a physical meeting and examination.
If you want information on any other aspect, you would need to be specific.