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A rare case of Tetra-amelia syndrome

Discussion in 'Pediatrics' started by Egyptian Doctor, Jan 15, 2012.

  1. Egyptian Doctor

    Egyptian Doctor Moderator Verified Doctor

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    Yovana Yumbo Ruiz is a Peruvian girl suffering from Tetra-amelia syndrome which is an extremely rare genetic disorder that prevents growth of limbs.

    Tetra-amelia syndrome, also called Autosomal recessive tetraamelia, is a very rare autosomal recessive congenital disorder characterized by the absence of all four limbs. Other areas of the body are also affected by malformations, such as the face, skull, reproductive organs, anus and pelvis. The disorder is caused by mutations in the WNT3 gene.

    The syndrome causes severe malformations of various parts of the body, including the face and head, heart, nervous system, skeleton, and genitalia. In many cases, the lungs are underdeveloped, which makes breathing difficult or impossible. Because children with Tetra-Amelia syndrome have such serious medical problems, most are stillborn or die shortly after birth. Motivational speaker Nick Vujicic is one survivor of the syndrome and Japanese author and sports journalist Hirotada Ototake is another.

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    Yovana Yumbo Ruiz.jpg

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    Last edited by a moderator: Jul 13, 2013

  2. Neelesh A Dharmadhikari

    Neelesh A Dharmadhikari Famous Member

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  3. einfopedia

    einfopedia Well-Known Member

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    its a very amazing.i have no knowledge about this disease that is this disease also found in the humans.but now after this article according to my knowledge a mutation in the WNT3 gene in people with tetra-amelia syndrome from one large family. This gene is part of a family of WNT genes that play critical roles in development before birth. The protein produced from the WNT3 gene is involved in the formation of the limbs and other body systems during embryonic development. Mutations in the WNT3 gene prevent cells from producing functional WNT3 protein, which disrupts normal limb formation and leads to the other serious birth defects associated with tetra-amelia syndrome.its may be a right?thanks
     


  4. g12321

    g12321 Super Moderator

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    feel sorry for the girl, I haven't seen one yet in the hospital but I just started my pediatrics residency.
     


  5. Leann Oware

    Leann Oware Young Member

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    Thank you.I thank God for my limbs.
     


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