Discussions By Condition: I cannot get a diagnosis.

son genetic d/o

Posted In: I cannot get a diagnosis. 1 Replies
  • Posted By: libbyj317
  • October 21, 2007
  • 01:22 AM

My son was born in August 05. He was 7 weeks premature and at 6 months he stopped gaining weight.

symptoms are as follows

failure to thrive
wormian bones in skull
sclerodermoid skin changes
accrostolyosis of distal phalanges
developmental delays
clubbing of fingers

anyone have any suggestions? Drs at CHOP are baffled.


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1 Replies:

  • Hajdu-Cheney syndrome http://www3.interscience.wiley.com/cgi-bin/abstract/80502116/ABSTRACT?CRETRY=1&SRETRY=0
    aquila 1,263 Replies
    • October 23, 2007
    • 05:09 PM
    • 0
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