Trying to Make Clubfoot a Thing of the Past
Tue, November 4, 2008 at 02:59AM History is full of people with a clubfoot - Emperor Claudius, Lord Byron, Sir Walter Scott, and Joseph Goebbels, to name a few. Perhaps the most famous fictional character with a clubfoot is Hippolyte in Flaubert's Madam Bovary; Dr Bovary's botched surgical correction is a sad but memorable episode in this great novel. More recently, the athletic successes of Troy Aikman and Mia Hamm make it unlikely that one would think they were born with this deformity. But clubfoot - talipes equinovarus, to use its Latin name - affects about 1 in 1,000 new births. It's long been thought to have a genetic component, and now a critical gene has been identified, according to a report in the American Journal of Human Genetics.
Washington University researchers analyzed the DNA of 35 extended family members of a patient with clubfoot in St Louis Children's Hospital. They found that a total of 13 family members were affected; 6 had clubfoot, and 5 others had lower limb abnormalities. All affected family members had a mutation in a gene called PITX1 on chromosome 5.
There's a familial link in about 1 in 4 cases of clubfoot. Genetic testing and subsequent counseling may allow carriers of this mutation to avoid marriage to another carrier - something which would almost certainly lead to a child with clubfoot. Fortunately, orthopedic measures, often using the successful Ponseti method, can produce excellent results in affected infants - think of Troy Aikman and Mia Hamm.
Reader Comments (2)
i am in desperate help for my handicapped brother who has e-coli since july 08 what do i do to help him where can i find help for him we have been in the hospital 3 times with no luck of getting rid of it been to vanderbilt hospital with no luck .will this kill him how do we deal with it ?email advice to sharon_keys_20062yahoo.com
Sharon:
I was hoping someone more expert than I would have answered you by now. I don't have any good suggestions, except that you should seeka physician who has experience in dealing with this problem. if your family docotr can't point you in the right direction, ask at the nearest big hospital for the physician in charge of infections. There may be some new information avaiable on the use of appropriate probiotics in such cases. Look at: http://www.ncbi.nlm.nih.gov/pubmed/15887106? (Probiotics are 'good' bacterial substances used in some forms of yogurt - see: http://www.medicinenet.com/probiotics/article.htm )
Good luck ! Bob G