Some days ago, the Unversity of Washington and the team of scientifics, providing us about a new discover on 2014, a syndrome named Poretti-Boltshauer. This syndrome has some characteristics signs:
- ocularmotor apraxia
-cyst on brain
-dysplasia and hippoplasya of vermis.
But all these signs couldn't not are in some patients, or other could be in, as Asperger or others. So remember that you must contact your doctor especialist on neurology to obtain information about this syndrome I read some medical abstracts about this and is not as Joubert Syndrome. Please, I repeat the importance to contact your neurological medical doctor.
I would show how is important the research and all studies that the wonderful team of scientifics of University of Washington are doing as they found a gen LAMA1 related with this syndrome. Thanks a lot to this magnific team for his work.
The advance of the investigation are more important every day.
Please dont' forget that this is a blog and not a medical book, and my work, for the moment is orientative.
A continuación dejo los links más importantes de los que he obtenido la información médica, y como siempre, agradezco de nuevo el impecable trabajo que los investigadores y científicos de la Universidad de Washintgon, del programa Hindbrain Malformation Research, están realizando.
So, then I show the links from I've found the medical information
NCBI: Mutations in LAMA1
Information from University of Washington and Hindbrain Malformation Research about Poretti-Boltshauer Syndrome