Doctor J.Noonan
In 1883 a case reported by Doctor Kobyllinski described the 20 year old patient as having a webbed neck
this set in motion the timeline for Noonan’s Syndrome. More cases of odd
physical features within patient became somewhat frequent this was later labeled
as Male Turner Syndrome. Its name later changed to Bonnevie-Ullrich Syndrome
when a twenty year studied showed a 4:1 woman: men ratio showing similar traits
in lab mice bred by Bonnevie. The name became Noonan Syndrome after
the 60’s when pediatrician and heart specialist Jacqueline Noonan
introduced Clinical study presented associated non-cardiac malformations in
children with congenital heart disease including wider spaced eyes, low set
posteriorly rotated ears, short stature and chest deformities. She studied over
800 patients that she saw with this disorder she eventually published a paper
entitled Hypertelorism with Turner Phenotype, and in 1971 at the Symposium of
Cardiovascular defects, the name 'Noonan Syndrome' became officially recognized.
1883: 1st reported case, 20 year old patient with webbed neck
(Kobylinski)
1902: Report of patient with webbed neck and short stature (Funke)
1930: 8 year old girl with webbed neck and short stature (Ullrich)
1938: Older women with similar facial characteristics, webbed neck, short stature and sexual
infantilism / delayed puberty (Turner)
1943: "Male Turner Syndrome" label introduced (Flavell)
1949: Report of a group, studied over 20 years, with a 4:1 women: men ratio showing traits
similar to those developed in mice by bred by Bonnevie. This led to the label "Bonnevie-Ullrich
Syndrome"
1959: 45,X Chromosome discovery for Turner Syndrome(TS) shows it to be gender specific.
Therefore, sydrome in male patients is something different
1960s and 70s: With the discovery of the TS chromosome anomaly, a broader study of 48 cases
showed some females previously diagnosed as TS were actually what was later called Noonan
Syndrome(NS). Despite intense efforts by researchers, no chromosome anomaly could be found
for NS.
1962: Clinical study presented associated noncardiac malformations in children with
congenital heart disease including wider spaced eyes, low set posteriorly rotated ears, short
stature and chest deformities (Noonan)
1968: Label of Noonan Syndrome introduced (Optiz)
1972: First documented case of hypertrophic cardiomyopathy (HCM) (Ehlers et al) and intestinal lymphangiectasis reported (Vallet et al)
1975: Additional cases of HCM reported (Hirsh et al) and pulmonary lymphangiectasis (Baltaxeet al)
1970s and 80s: Reports of lymphatic issues including lymphatic dysplasia
1983: Partial deficiency of Factor XI reported (Kitchens & Alexander) plus Factor VIII and XII as well as thromcytopenia and platelet dysfunction
1990s:Myeloproliferative disorders, including JMML, are reported as well as growth hormone studies undertaken and use reported
1992: Vision / eye issues and feeding issues are reported
1994: Gene mapped to chromosome 12
2001: Gene mutation on PTPN11 reported (Tartaglia et al)[2]
2006: KRAS (Schubbert et al)[2]
2007: SOS1 (Roberts et al,Tartaglia et al) and RAF1 (Pandit et al)[2]
In the early 1900s American eugenics took over the nation. targeting any and
everyone who was deemed to have undesirable traits that would pollute societies
gene pool. So as a measure to keep and cleanse the gene pool American doctors
began performing thousands of sterilizations across the US. all ages were
targeted more so those who were feeble minded or had some physical deformity.
Noonan's syndrome was one of those undesirable traits though mental delay was
usually mild it was the appearance and ability to pass this disorder which
had many sterilized.
This happened across the sea's as well in Nazi Germany . They took what the US
had done and took it to the next level when they began to euthanize people who
they felt were not of pure Aryan blood and a danger to the race . feeble minded
people along with people with hereditary diseases (both carriers and those
affected) and people not of their race such as mainly Jews and gypsies were
targets for this program. Now there are many support groups whether its through
a hospital or a local community. There are also foundation websites (such as the
one I created or the Noonan syndrome support group. INC)to help these families deal with this
disorder.
this set in motion the timeline for Noonan’s Syndrome. More cases of odd
physical features within patient became somewhat frequent this was later labeled
as Male Turner Syndrome. Its name later changed to Bonnevie-Ullrich Syndrome
when a twenty year studied showed a 4:1 woman: men ratio showing similar traits
in lab mice bred by Bonnevie. The name became Noonan Syndrome after
the 60’s when pediatrician and heart specialist Jacqueline Noonan
introduced Clinical study presented associated non-cardiac malformations in
children with congenital heart disease including wider spaced eyes, low set
posteriorly rotated ears, short stature and chest deformities. She studied over
800 patients that she saw with this disorder she eventually published a paper
entitled Hypertelorism with Turner Phenotype, and in 1971 at the Symposium of
Cardiovascular defects, the name 'Noonan Syndrome' became officially recognized.
1883: 1st reported case, 20 year old patient with webbed neck
(Kobylinski)
1902: Report of patient with webbed neck and short stature (Funke)
1930: 8 year old girl with webbed neck and short stature (Ullrich)
1938: Older women with similar facial characteristics, webbed neck, short stature and sexual
infantilism / delayed puberty (Turner)
1943: "Male Turner Syndrome" label introduced (Flavell)
1949: Report of a group, studied over 20 years, with a 4:1 women: men ratio showing traits
similar to those developed in mice by bred by Bonnevie. This led to the label "Bonnevie-Ullrich
Syndrome"
1959: 45,X Chromosome discovery for Turner Syndrome(TS) shows it to be gender specific.
Therefore, sydrome in male patients is something different
1960s and 70s: With the discovery of the TS chromosome anomaly, a broader study of 48 cases
showed some females previously diagnosed as TS were actually what was later called Noonan
Syndrome(NS). Despite intense efforts by researchers, no chromosome anomaly could be found
for NS.
1962: Clinical study presented associated noncardiac malformations in children with
congenital heart disease including wider spaced eyes, low set posteriorly rotated ears, short
stature and chest deformities (Noonan)
1968: Label of Noonan Syndrome introduced (Optiz)
1972: First documented case of hypertrophic cardiomyopathy (HCM) (Ehlers et al) and intestinal lymphangiectasis reported (Vallet et al)
1975: Additional cases of HCM reported (Hirsh et al) and pulmonary lymphangiectasis (Baltaxeet al)
1970s and 80s: Reports of lymphatic issues including lymphatic dysplasia
1983: Partial deficiency of Factor XI reported (Kitchens & Alexander) plus Factor VIII and XII as well as thromcytopenia and platelet dysfunction
1990s:Myeloproliferative disorders, including JMML, are reported as well as growth hormone studies undertaken and use reported
1992: Vision / eye issues and feeding issues are reported
1994: Gene mapped to chromosome 12
2001: Gene mutation on PTPN11 reported (Tartaglia et al)[2]
2006: KRAS (Schubbert et al)[2]
2007: SOS1 (Roberts et al,Tartaglia et al) and RAF1 (Pandit et al)[2]
In the early 1900s American eugenics took over the nation. targeting any and
everyone who was deemed to have undesirable traits that would pollute societies
gene pool. So as a measure to keep and cleanse the gene pool American doctors
began performing thousands of sterilizations across the US. all ages were
targeted more so those who were feeble minded or had some physical deformity.
Noonan's syndrome was one of those undesirable traits though mental delay was
usually mild it was the appearance and ability to pass this disorder which
had many sterilized.
This happened across the sea's as well in Nazi Germany . They took what the US
had done and took it to the next level when they began to euthanize people who
they felt were not of pure Aryan blood and a danger to the race . feeble minded
people along with people with hereditary diseases (both carriers and those
affected) and people not of their race such as mainly Jews and gypsies were
targets for this program. Now there are many support groups whether its through
a hospital or a local community. There are also foundation websites (such as the
one I created or the Noonan syndrome support group. INC)to help these families deal with this
disorder.