Caroline Silve* and Harald Jüppner
Corresponding author: Caroline Silve Caroline.Silve@bichat.inserm.fr
Orphanet Journal of Rare Diseases 2006, 1:37 doi:10.1186/1750-1172-1-37
(2008-07-09 10:01) my own info
I am a 34 year old woman with Ollier's disease. I have had this disease for longer
than I can remember. I have never met anyone else with it either. This is the first article that I've read that explains
it in terms that I can understand. This is also the first time I have read an article
that speaks what I have been going through thoroughly. I have had about 20 operations
on this disease;and I am told that I will always have to have more.
(2007-05-30 16:37) Dr Sami Ulus Children’s Hospital, Ankara, TURKEY
The Relation Between Chromosomal Abnormality and Enchondromatosis
Saliha Senel, M.D.Department of pediatrics, Dr Sami Ulus Children’s Hospital,
Nilufer Karadeniz, M.D. Department of Genetics, Zubeyde Hanım Hospital, Ankara,
Emrah Senel, M.D. Department of pediatric surgery, Diskapi Children’s Hospital,
Saliha Senel M.D.
Dr Sami Ulus Children’s Hospital, Telsizler ,Ankara, Turkey
Phone: +90 312 3056014
Fax: +90 312 3170353
E mail: firstname.lastname@example.org
We read with great interest ‘Ollier disease’ in the September 2006 issue
of ‘Orphanet journal of rare diseases’in which authors stated that there
were no tumor spesific chromosomes or chromosomal regions associated with enchondromas
The relation between enchondromatosis and chromosomal abnormality is not fully known
but we think the authors had to mention about the finding of Nakayama et al. that
demonstrated an excess of heterochromatin in the q band of the chromosome 1 in a chordoma
associated with Maffucci syndrome which is characterized by enchondromas associated
with hemangiomas (2).
1.Silve C, Jüppner H. Ollier disease. Orphanet J Rare Dis. 2006;22;1:37.
2. Nakayama Y, Takeno Y, Tsugu H, Tomonaga M. Maffucci’s syndrome associated
with intracranial chordoma : a case report. Neurosurgery. 1994;34:907-909.
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