In a message dated 30/11/96 16:28:44, [log in to unmask] writes:
<< The only reference I could find is that it can be confused with Turner's
syndrome but is different because pulmonary stenosis and other problems
including mental impairment are likely.
I found a Nonnan Syndrome society, but the server there runs like treacle
through a sponge and never got the last half of the page to me.
http://www.paston.co.uk/users/maygurney/tnssg.htmland ditto
ns.html
can anyone enlighten me, what is the basic defect egne or hcromosome?
--- OffRoad 1.9n registered to Adrian Midgley
---------------------- >>
Noonans syndrome is a multi system genetic defect due to a partial deletion
of the x chromosome (I think). The phenotypical appearance is that of Turners
syndrome, short stature, webed neck, increased carrying angle. There is
associated valvular heart disease, usually pulmonary stenosis but there can
be other lesions. Kyphoscoliosis is common. Unlike turner's syndrome, the
genital tract may be normal and they can have children. It is not always
obvious and may not be associated with mental retardation.
I have had a patient with it who was diagnosed when sent to a cardiologist as
the orthopods picked up her murmur prior to consideration of hip replacement.
She was in her 70's, was mentally normal and had had children (who are not
affected). She also had rheumatoid disease. She died of cardiac failure
worsening her poor respiratory function due to her kyphoscoliosis, after she
had had her hip replacement done.
Trefor Roscoe E-mail;[log in to unmask]
Beighton Health Center Tel 0114-269 5061
Queens Road Fax 0114 269 7186
Sheffield S19 6BJ
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Date: 96-11-30 11:28:44 EST
The only reference I could find is that it can be confused with Turner's
syndrome but is different because pulmonary stenosis and other problems
including mental impairment are likely.
I found a Nonnan Syndrome society, but the server there runs like treacle
through a sponge and never got the last half of the page to me.
http://www.paston.co.uk/users/maygurney/tnssg.htmland ditto
ns.html
can anyone enlighten me, what is the basic defect egne or hcromosome?
--- OffRoad 1.9n registered to Adrian Midgley
----------------------
Dr Adrian Midgley GP Exeter
[log in to unmask]
Fax 01392-436105
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