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#1
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01-26-2010, 05:05 AM
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 My Rank: CORPORAL Poster Rank:1308 .....chick Join Date: Jan 2010 Posts: 465 Mentioned: 0 Post(s) Quoted: 1 Post(s)
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Neu-Laxova Syndrome
I saw a pic of a kid with this syndrome on this site and I had to look it up and learn more I've never seen anything like this really crazy stuff poor babies  Neu-Laxova syndrome is a rare autosomal recessive disorder characterized by severe intra-uterine growth restriction (IUGR), extreme microcephaly, marked edema with skin restriction, ichthyosis, craniofacial anomalies, limb deformities, and a spectrum of central nervous system malformations. Less than 70 cases have been described since the first report in 1971. To this day the etiology and genetic basis remains unknown. Consanguinity in four families has been reported. Some authors have postulated the syndrome to be a form of neuro-ectodermal dysplasia, while others suggest that it is a malformation syndrome secondary to severe skin restriction. Although the outcome of this syndrome is lethal, a single case of longer survival (6 months) has been reported. The majority of cases are stillborn or die shortly after birth. Thus, it is clear that Neu-Laxova exhibits a spectrum of disease, with varying degrees of phenotypic expression. We are presenting three new cases of Neu-Laxova syndrome with detailed gross and microscopic post-mortem findings displaying the vast spectrum of this rare syndrome.  ·  ·  ·  ·  ·  · |
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#2
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01-26-2010, 06:45 AM
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 ★ Legacy Member ★ Poster Rank:1950 Female Join Date: Feb 2009 Posts: 258 Mentioned: 0 Post(s) Quoted: 5 Post(s)
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Re: Neu-Laxova Syndrome
Aha! Very good... a particularly unusual syndrome, and one that I've seen in many posts being blamed on something else, but never identified correctly.  |
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#8
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01-26-2010, 08:54 PM
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 ♚ Legacy Gold Member ♚ Poster Rank:195 Female Join Date: Nov 2009 Posts: 7,764 Mentioned: 5 Post(s) Quoted: 709 Post(s)
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Re: Neu-Laxova Syndrome
Ok, I googled it and got "the quality or state of being consanguineous". Great, that was really helpful. Oh ok, got it. "a close relation or connection". In other words in breeding, why don't they just say that for gawds sake. All these big words!
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#9
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01-28-2010, 04:22 AM
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| My Rank: CORPORAL Poster Rank:1308 .....chick Join Date: Jan 2010 Posts: 465 Mentioned: 0 Post(s) Quoted: 1 Post(s)
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Re: Neu-Laxova Syndrome
hahhaha i know right they have to describe everything as difficult as humanly possible lolzors after looking up 3/4 of the words though it makes sense  |
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#10
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01-28-2010, 06:42 AM
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 Sexy lil minx Poster Rank:1114 Imma girl Join Date: Jul 2009 Posts: 589 Mentioned: 0 Post(s) Quoted: 9 Post(s)
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Re: Neu-Laxova Syndrome
it's so you learn something, hehe. kinda look at it like home schooling. what? >_> feel bad for those babies though. and imagin the mother if she sees it. I think you'd be traumatized for a while. |
