Guest guest Posted March 20, 2005 Report Share Posted March 20, 2005 What are the various things that a genetecists does to check for rss? I am curious, because my sons arms are shorter than normal and he has many characteristics of rss (bent pinky, tiny hands, large head, 1/2 foot shorter than most kids his age, giant soft spot that closed after two years old) however, he does not seem to be RSS by the size/weight problems mentioned on this board. He turns 4 may 2nd weighs 29 pounds and 36.5 inches. He has grown about two inches in the last 6 months and maybe gained one pound, but he has no eating issues. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 21, 2005 Report Share Posted March 21, 2005 When my daughter was seen by a genenticist she did a physical examination of and also a lot of family history and a family tree. She said there is a blood test to check for the UPD 7. My daughter was diagnosed with RSS by the geneticist, however, Dr. H, an endocrinologist in NY who is an expert in RSS says she is not, that she is growth failure. B 5 and Kelli 2 1/2 --- " S. Saul Solis " wrote: > What are the various things that a genetecists does > to check for rss? I am > curious, because my sons arms are shorter than > normal and he has many > characteristics of rss (bent pinky, tiny hands, > large head, 1/2 foot shorter > than most kids his age, giant soft spot that closed > after two years old) > however, he does not seem to be RSS by the > size/weight problems mentioned on > this board. He turns 4 may 2nd weighs 29 pounds and > 36.5 inches. He has > grown about two inches in the last 6 months and > maybe gained one pound, but > he has no eating issues. > > > > [Non-text portions of this message have been > removed] > > __________________________________________________ Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 21, 2005 Report Share Posted March 21, 2005 Hi. my daughter was seen by her geneticist at 7 mos of age. He measured her arms, legs, head circ, distance between eyes and ears etc. every measurement imaginable. He measured her forehead also. He measured her hands and feet, examined her body. She does have an inturned 5th finger but it is a family trait on my side, all though I have to say hers is much more curved, she also has a head in 50 % and body size and weight under the charts, her soft spot was examined, and now at 14 most it's still pretty big. Then a detailed family history, parents sizes, birhtweight and problems with pregnancy, feeding problems until that point, reviewed her growth chart till that point and determined she has a mild form of RSS. He explained to me how it can be presented very extreme with all or most characteristics or much milder with only a few presenting. He tested her for everything else that could have been a possible like 's syndrome by doing a karotype chromosome layout. He also did a upd7 test which approx 10% of RSS test positive for but it is not a RSS yes or no test, her's came back negative, but didn't rule out RSS, just told us it wasn't that form of it. Then he took pics of her and there is a weekly meeting at children's hospital here where all cases are discussed and shared with other specialists in the same field to get other opinions and they all agreed with him. We have not been to see the RSS specialist in NY so I don't know what she would say about Autumn, but either way it gets treated the same. Also, when he told me she had a triangular shaped head with a wide broad forehead I went home and measured her myself. It measured bigger than my 2 older boys and myself, but I would never have thought by just looking at her! It's not as noticable in some angles and very obvious in others. Good luck to you. mom to Autumn 14 mos RSS 16 pounds now!!!!!!!!!!!!!!!!!and about 27 inches!!!!!!!!! Skye 6 1/2 Ocean 2 1/2 baby girl due in July > What are the various things that a genetecists does to check for rss? I am > curious, because my sons arms are shorter than normal and he has many > characteristics of rss (bent pinky, tiny hands, large head, 1/2 foot shorter > than most kids his age, giant soft spot that closed after two years old) > however, he does not seem to be RSS by the size/weight problems mentioned on > this board. He turns 4 may 2nd weighs 29 pounds and 36.5 inches. He has > grown about two inches in the last 6 months and maybe gained one pound, but > he has no eating issues. > > > > Quote Link to comment Share on other sites More sharing options...
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