Posted by Holly
on 10/31/2009, 8:42 pm, in reply to "Pectus excavatum (sunken chest)"
174.56.131.147
Hey Rachael...just wanted to respond to your post. Pectus excavatum is thought to be a congenital defect and is not caused by respiratory distress as a newborn or having retractions as a result of resp. distress. It is not associated directly with prs but rather other syndromes connected with prs. It is more common in inherited connective tissue disorders like sticklers syndrome and marfan syndrome. It is listed under the list of symptoms/findings of sticklers syndrome on this very site. I know that you say that they have told you that your son's case is "isolated", but i would begin to wonder with a finding like this. I too was told that my daughter's prs was isolated when she was born. Her first genetics doctor did not even see a reason to have her tested. I got a second opinion and lo and behold my daughter and most of the people in my family have sticklers syndrome. Sticklers syndrome, depending on what you read is found in 40% or more of patients with prs. Genetics testing will only isolate the mutation on the gene 75% of the time, so it is important to have a doc that is familiar with the disorder and its potential presentations in a patient/family. I do know from my nursing experience that pectus excavatum can seem to "worsen" during growth spurts, so maybe it is becoming more noticeable at this time. I would suggest getting another genetics opinion or at least bringing this up to his current genetics doc and see what he/she has to say. It is in most cases "cosmetic" but can cause some problems with heart/lung function in very severe cases.
--Previous Message--
: Hello again, so I have a new concern and am
: wondering if anyone else has an opinion, my
: husband and I have been concerned about our
: son's "sunken chest" and I have
: recently come across the medical term Pectus
: excavatum. I didn't realize that this was
: something that is associated with PRS. We
: believe his was caused by weeks of
: struggling to breathe and his chest
: retracting as a newborn. He had oxygen sats
: in the 80's & 90's for weeks until they
: finally put him on oxygen. His chest is not
: deeply sunken but it is noticeable. Does
: anyone have any advice as to specialists,
: testing, or procedures associated with this?
: I appreciate you help
: Thank you,
: Rachael
: Mom to Brody 16months Isolated PRS
: LTA, G-tube (now removed), Mandibular
: Distraction, P.E. Tubes, Repaired Cleft
: Palate
:
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