rare syndrome

[lisaob1]

hi doctor have you ever heard of goldberg and shprintzen syndrome? without looking it up firstly and if you have what do you know about it?

[lisaob1]

thankyou.

[maatson]

I sure do and shall keep you informed.My good wishes and appreciation for the love for your child.

[lisaob1]

hi i appreciate you replying but typically tell me something i dont already know. it can be confused with velo-cardial but its not,its 22q11.2 goldberg and sphrintzen not be confused with sphrintzen goldberg syndrome. my daughter is one of only 15 in the world,not a lot of doctors are aware of this syndrome.as its so rare i still feel i need to find out if anybody out there knows anything...

[maatson]

‘‘Montefiore’’ syndrome,
naming the syndrome after the hospital where
these patients were diagnosed.
American Journal of Medical Genetics 76:202–212 (1998).
http://digital.library.pitt.edu/c/cleftpalate/pdf/e20986v15n1.11.pdf.

[maatson]

Cleft palate,typical face,cardiac anomalies,learning disabilities- a genetic syndrome also known as velo- cardiac- facial syndrome.