Re: thalidomide

Posted By HFH MD on February 25, 1999 at 13:00:35:

In Reply to: thalidomide posted by Guido on February 23, 1999 at 15:37:42:






Hallo
I am translating a British documentary film about new uses of thalidomide for the Flemish public television.
One interview is with a patient who was told he had a typical thalidomide
disorder but who had a child with the same symptoms. This is not possible with thalidomide.
It is said that there are certain genetic disorders with exactly the same symptoms as in thalidomide. As soon as a patient from the thalidomide group has a child with the same symptoms, one can be certain that he or she
is not thalidomide but has one of the genetic disorders.
My question (it is simple curiosity) :
which are those genetic disorders?
Thank you
Guido




Thalidomide mainly effect the development of the extremities.It results from the fetus being expossed to the medication in the first 2-10 weeks of life. Brothers or sisters of the effected child are not at risk as it does not result from inheriting an abnormal gene(s). On the other hand genetic syndromes result from inheriting an abnormal gene(s) rather than being exposed to a teratogen in utero.
The genetic syndromes which may resemble thalidomide phocomelia (extremly short or abscent limbs) are:
1. Grebe syndrome- marked distal limb reduction, polydactyly (too many fingers), normal facies-  autosomal recesive
2. Holt-Oram syndrome- upper limb defect, cardiac anomaly, narrow shoulders- autosomal dominant
3. Roberts-SC phocomelia syndrome- hypomelia (short extremities, midfacial defect (cleft lip), severe growth deficiency-  autosomal recessive