Tuesday, May 3, 2011

Acrocephalosyndactyly

Apert syndrome is a congenital disorder; characteristics include skull malformations and fusing of the hands and feet.  Eugene Apert is the French physician who, in 1906, first documented patients presenting symptoms of this syndrome.  The BBC reported on "Finley", a one-year old, who underwent skull surgery for his Apert's.  The surgery was described involving removal of the skull and, like a 3D puzzle, breaking it apart and putting it back together again.  With Apert's the sutures that typically enable the skull's brain growth get fused together in utero.  So, Finley had a bit of a horn effect because the plates weren't allowed room to grow around his brain, so they moved up and out.  Yet, skilled surgeons corrected this in about four hours.
The disorder is thought to possibly be autosomal, which means that the mutation is a trait which hangs out on the X and Y chromosomes (these combos being the place where sex is determined).  While the sex-determining chromosomes are thought to be the loci for the trait, males and females are equally affected.

While Finley will need additional surgeries in the future as his facial features require room for growth, it is admittedly pretty amazing that in the span of a little more than a century, when Monsieur Apert first "documented" the disorder and perhaps could best advise a beret to hide the atypical bone growth, to now when his physician successors can literally remove the skull and reconfigure it--simply, remarkably a human puzzle, which, of course, we all are, pieces upon pieces of ourselves, unique and alike simultaneously.

Life sometimes can be acrocephalosyndactyly.
acrocephalosyndactyly:  --noun
  a congenital syndrome characterized by a peaked head and webbed or fused fingers and toes

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