Sunday, February 4, 2007

Visit to the Geneticist

A couple weeks ago we took our daughter to see a local geneticist at the University of Nebraska Medical Center. While they didn't do blood work during this first appointment, the doctor did examine her hand. As with the majority of doctors we've seen, he did not think it was amniotic band syndrome -- do to tell-tale signs like the formation of finger nails.

His best initial guess was an atypical version of ectrodactyly, which is the medical term for the unfortunately labeled "lobster claw." The timing is ironic given that this condition is in the news courtesy of Bree Walker's appearance on Nip/Tuck.

Based on previous consultations and our own research, both my wife and I are skeptical it's actually ectrodactyly. That condition usually means the third metacarpal bone is missing and the hand forms a deep cleft where that bone should be. While we haven't had a truly conclusive x-ray on our daughter's hand, the hand surgeon we saw in Omaha thought he felt that all the metacarpal were present and during our initial consultation at the Curtis National Hand Center, I recall that team also ruling out ectrodactyly.

I'll be covering genetics in future posts as more tests are done over the next few weeks.

As an aside, in our appointment we were joined by about half-a-dozen medical students. The more the merrier as far as my wife and I were concerned. We know the rarity of this condition dictates that it's not often seen by most physicians, especially when they train and practice in a smaller city. Hopefully the subsequent discussions about my daughter's condition will help familiarize more local physicians with congenital hand deformities and improve their ability to diagnose and counsel other parents who will be faced with this situation in the future.

No comments: