Discussions By Condition: I cannot get a diagnosis.


Posted In: I cannot get a diagnosis. 2 Replies
  • Posted By: Anonymous
  • May 16, 2008
  • 06:51 PM

Iam a docter &have a pation with multipe signs corse fasces hypertelorysim low set ear polydactyle MR stif joint grothretardation no organomegalia no FH for disease big mouth

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2 Replies:

  • Ive just done a quick search (im no doctor so probably way off mark here and the following i dont think entirely fits??).. but i found something which has some same things as going on with your patient and if your patient was born or a big baby? who knows..(that's the only visual finding which i could find consistant with the problem below as it can appear in many different ways) http://hmg.oxfordjournals.org/cgi/content/full/9/9/1321/DDD145TB1 ...Simpson-Golabi-Behmel syndrome (SGBS). Hypertelorism, polydactyly, course features, Macrostomia (abnormally large mouth) all happen with this condition
    taniaaust1 2,267 Replies Flag this Response
  • A good place to search for genetic conditions is here: http://www.ncbi.nlm.nih.gov/omim/
    aquila 1,263 Replies Flag this Response
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