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Hi Jen,
I am a member of the Sotos site as well as this site. My son is diagnosed as Sotos-like and is now 8 years old. The brains of Sotos individuals are not (from I have been told) any larger than usual…it is the skull that is larger from what I understand. I saw Susan posted and said the arm-span is about the same as their height. (Hi Susan! J) In some cases the arm span is longer than their height, I actually saw a picture of a child (in the medical literature for Sotos) where the childs arms were longer and it was noticeable probably because the boy was in his under clothes when the picture was taken. My son’s arms equaled his height…I measured it after reading the article. They are long definitely, but not as dramatic as the boy in the medical literature I read about.
In most cases for a diagnosis of Sotos the child has to have the classic facial features of Sotos…body size and head size are just two of the things they would look for in making a Sotos dx. My son is diagnosed as Sotos-like because he had a more rounded face as apposed elongated. When he got older and lost the baby chub on his face, you could see the more pointed chin…his head is tall, but not the same as a person with Classic Sotos. We have never done the gene testing as it was not available when our son was diagnosed. Maybe at some point in the future we may consider doing it. We still have the clinical diagnosis to help us get services and support for him.
Here is a snippet from the book “Sotos Syndrome A Handbook For Families” about the criteria used for a diagnosis of Sotos.
“The strict criteria proposed for a diagnosis of Sotos syndrome requires at least three of the following: facial appearance consistent with the original reports; birth length above the 90th percentile, bone age above the 90th percentile; and early verbal and motor delays. Many children have large heads, low tone and developmental delay, without the classic constellation which can be confidently called Sotos syndrome. Children who lack a number of these features are more properly classified as showing “Sotos-like” characteristics. Specialists do not yet know whether these children are part of the spectrum of Sotos syndrome, or whether they represent variants or distinct conditions. For practical purposes, the medical, emotional, educational and behavioral needs are very similar. Maintaining a distinction will help researches define these conditions more accurately and will prevent mistaken assumptions with regard to particular children. On the whole, our experience is that children with Sotos-like patterns may resolve their early tone and speech problems more completely than children with Classic Sotos syndrome.”
My son falls into the Sotos-like category. I noticed your son has a shunt for hydrocephalus. Some kids with Sotos have enlarged ventricles, but do not require a shunt and some do. One of the things common with Sotos brains is enlarged ventricles and some other structural differences like a thin corpous collosum (sp). My sister (non-Sotos) has had a shunt for hydrocephalus since she was 11 years old and is now 39. Hers was due to an injury when she was under the age of 2 (a car accident) or a birth defect that did not pose a problem until she got older. They really cannot see “why” she gets the enlarged ventricles, but can see them. The CT scans and MRI’s don’t show where the problem starts just the end result of extreme pressure on her brain from the over filled ventricles.
I hope this info helps. Also, you may want to consider having Dr. Bradley Schaefer (US expert on Sotos) review your sons medical records. He does this for free for people who are looking to diagnose or rule out Sotos as a possibility. He is at the University of Nebraska. He is one of the doctors who actually discovered the unique characteristic brain changes of Sotos patients. He also attends the annual Sotos Syndrome conferences in the USA. He may be able to suggest another condition-syndrome as well if it is not Sotos. He is a very kind man!! He diagnosed our son along with our local geneticist. His contact info is on the Sotos Syndrome website under the files section.
I hope you find some answers soon!
Pam J
-----Original Message-----
From: UndiagnosedOvergrowthSyndromes@yahoogroups.com [mailto:UndiagnosedOvergrowthSyndromes@yahoogroups.com] On Behalf Of Jennifer Rodgers
Sent: Thursday,
January 10, 2008 10:10 AM
To: UndiagnosedOvergrowthSyndromes@yahoogroups.com
Subject: Re:
[UndiagnosedOvergrowthSyndromes] new to the group
Maxine, I am guessing that the main feature is
the size and shape of his noggin. It is a whopping
53.5. He has always had a huge head. He is 27.5 in long, his torso
makes up most of that measurement. He has comparatively short legs and
arms, but the geneticist is attributing that to my family because apparantly my
mom told him that my dad has short arms and legs. Paul also has what the
doc is calling lymphedema of his whole body. I just watched a show on
that and Paul does not look like that. I guess it usually attacks the
arms and legs. Paul is "puffy" everywhere and always has
been. He has extra creases and joint laxity. He weighs just about
26 lbs(only 4 lbs away from his 3 yr old brother). He was
hypoglycemic at birth, jaundice, and terrible feeding troubles (still
do). I read that those are some problems that neonates with sotos
have. I still really don't know what to think. I guess we will just
have to see how he grows AND monday we have CT scan then scheduling posterior
fossa decompression surgery for Feb or March. I am really scared and was
wondering (am going to ask doc) that if he does have sotos, does that mean that
his brain is jsut going to keep getting bigger and would that mean that he
would need more tha just this
surgery?!
This site is quiet, Jenny
maxine powis <mxnpowis@yahoo.
hi, i think its quite accurate,but i now understand from michaels doctors that you can still have sotos and test negative for it,its a fairly new test and there could be more than one mutation that they havent identified as of yet,its complicated stuff i dont know much about it ,sorry! what other clinical features does he have,michael has all the features of sotos but tested negative ,we are seeing a specialist on sotos who will confirm it either way for us ,we have to wait about 10 more weeks,weve been waiting since october to be seen,but hes such a good doctor its worth the wait! maxine uk
Jennifer Rodgers <malachitemomof2@yahoo.com> wrote:Maxine- I actually do not know what makes them think that it is Sotos. I am guessing the size and shape of his head. I really do not know. How accurate is the gene testing for Sotos? Jen
maxine powis <mxnpowis@yahoo.co.uk > wrote:hi jen,sorry to hear youve all bee through so much,i dont come on here very often as this sites not really that active,my son is most probably sotos and we are waiting to see an expert in a couple of weeks time to confirm even though he tested negative with the gene testing,what characteristics does your son have that makes the docs think its sotos? keep in touch and you could always go on the sotos support site there are lots of people you could talk to on there,there are quite a few with other growth disorders who go on there and ask questions and make friends who have been through similar stuff,good luck and keep me posted,maxine uk
malachitemomof2 <malachitemomof2@yahoo.com> wrote:My name is Jen and I am the mother of a 1 yr old, who for the past year
has been a dwarf, and now they are saying he is a giant. At birth he
was a whopping 9 lbs and 19 in long...oh yea...and 5 3/4 weeks early.
So he has been big to begin with. When he was in utero - they told me
he had hypochondroplasia. So he has been a dwarf for the past year and
now all of a sudden they are changing their diagnosis to a cerebellar
gigantism? I joke saying that he has some kind of new giant-dwarfism.
He is HUGE, but he is unporportional and his body shape and head size
and facial features look just like dwarfism. Paul has been a very sick
little big man since he was born. He has had necrotizing entercolotis
2X, with stomach surgery the 2nd time. He also has hydrocephalus, which
was not present at birth. He was shunted at 5 mo of age and also
diagnosed with Arnold Chiari. Do any of your kids have Chiari? I was
wondering if there were some kind of link between gigantism and chiari.
A lot of dwarfs have that chiari also. Paul has lymphedema, which I am
really not sure what that means in long term. Everone says he is
chubby,but he just has all that puffiness. He always has, too. His
whole face was covered with a hemangioma also, but most of it went away
after a while. He is always sick. He is sick right now with some nasty
cough that has been going on for 2 months. First he had the croup, then
ear infections, the bronchiolitis, and now they say he is not sick at
all, even though he coughs so hard sometimes he pukes. Whatever though.
I can't do anything else. He is very very happy. He is severly
hypotonic and cannot sit up (even with help) and cannot crawl and docs
have given the impression that he may never walk. I think anything is
possible, so I do not believe that. Paul is scheduled to have the
surgery for the chiari next month and I don't know what to do now.
They are leaning towards sotos, are awaiting results...will post pics
asap. Any comments, questions are greatly appreciated.
Thx, Jen
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