Question
I have a 3 year old nephew who has been diagnosed with Brackmann De-Lang and have been having difficulties find any information on the subject.  I can find information on Cornilla De-Lang syndrome where the 5th chromosome breaks off attaches to the 8th and then form an L shape but not Brackmann De-Lang were the 4th chromosome breaks off and attaches to the 8th forming an l shape.  Can you please suggest anywhere that will give us the information and help that we need?  The doctor who has made the diagnosis says that only 14 people in the world have this syndrome.

Many Thanks in anticipation of your response
Susan Buckton


Answer
Hi Susan,

I was under the impression that Brachmann de Lang and Cornillia de Lange syndrome were one in the same. The CDLS web site appears to confirm this.

I then looked on MedicineNet.com and found this:

"The syndrome is named for a Dutch physician, de Lange (whose first name was Cornelia). She was professor of pediatrics in Amsterdam. In 1933, Dr. de Lange reported 2 infant girls with mental deficiency and other features now associated with the syndrome. The syndrome is also called the Brachmann-de Lange syndrome, thanks to Dr. John Opitz who has recounted that: "In the fall of 1963...the former head of the...Libraries, came to ask my advice on what to do with a series of volumes of the Jahrbuch fur Kinderheilkunde, which had been damaged...by a burst water pipe. In particular, she was upset by volume 84, dated 1916, the pages of which were completely glued together except for one place, the article beginning on p. 225. I was startled to find out that here was an article on the Cornelia de Lange syndrome written 17 years before de Lange's first paper of 1933. The author, Dr. W. Brachmann, whose subsequent fate is unknown to me, was then a young physician in training, who apologized that his study of this remarkable case was interrupted by sudden orders to report for active duty (in the German Army)."


Now, if you search the PubMed.com website for "Brachmann de Lange" you will get several articles that specifically address that as a syndrome, but again I suspect that these are one in the same.

http://www.ncbi.nlm.nih.gov/sites/entrez/

Good hunting, and I hope this information is helpful.