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ElfsMum View Drop Down
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    Posted: 11 September 2008 at 9:43am
does anyone have any info on

Spondyloepiphyseal dysplasia (SED) congenita

(follows an autosomal dominant' pattern of inheritance)
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susieq View Drop Down
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Could you google it
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fire_engine View Drop Down
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Sorry - took me a while to answer your Q from the other thread. I've only read the stuff on google - haven't ever heard of it before. I'm trying to think of sources of info in NZ. Again the genetic counselling service comes to mind. One article (case study) that came up about cleft palate repair in SED was written by surgeons at the Hutt Hospital burns and plastics unit. It included an email for the lead author who might be able to connect you with someone who knows more. Article abstract.
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ElfsMum View Drop Down
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thanks I will have a look later on! ...yeah we have an info sheet...i really dont like googling as often info is wrong.. and scary!:)the geneticist at the hospital really wanted to assess him and see him but he wouldn't go:(

we have the basics..and my Dad has a very mild form..but we have been told between 20-60 cases in the world when he got diagnosed in 1977 but I'm not sure how right that is.. sorry Flissty I wasn't trying to hurry you just wondering if anyone knew anything:) you never know...
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fire_engine View Drop Down
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Points: 6260 		Post Options Post Options   Thanks (0) Thanks(0)   Quote fire_engine Quote  Post ReplyReply Direct Link To This Post Posted: 19 September 2008 at 11:28am
Just found this website - don't know if it has info on SED Rare Disorders

ETA: if you go into the link "rare disease databases", and the emedicine, which you have to register for, it has a reasonable article on SED.

Edited by Flissty
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my2angels View Drop Down
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What is it? I havent heard of it but noticed the article mentions cleft palates which is interesting.
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ElfsMum View Drop Down
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It's a bone disease.. barrel chest.. and his arms and legs slowly locking up with bone attaching to his joints basically..I haven't read the article yet but he doesn't have any cleft palate issues.. will read tomorrow:)
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