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
hypotonia/hypertonia
clubbing of fingers

anyone have any suggestions? Drs at CHOP are baffled.

TIA

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1 Replies:

  • Hajdu-Cheney syndrome http://www3.interscience.wiley.com/cgi-bin/abstract/80502116/ABSTRACT?CRETRY=1&SRETRY=0
    aquila 1263 Replies
    • October 23, 2007
    • 05:09 PM
    • 0
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