Klippel-Feil - rare congenital anomaly
Posted By: nm on 2008-06-20
In Reply to: clipophile - Nancy
Subject: Klippel-Feil - rare congenital anomaly
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- Klippel-Feil - rare congenital anomaly - nm
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looks like Klippel-Feil ? sm
Subject: looks like Klippel-Feil ? sm
Klippel-Feil syndrome
[MIM*148900]; a congenital defect manifested as a short neck, fusion of cervical vertebrae, and abnormalities of the brainstem and cerebellum; autosomal dominant inheritance, with most cases sporadic. Syn: cervical fusion syndrome.
Klippel-Feil
Subject: Klippel-Feil
It's probably Klippel-Feil. (nm)
Subject: It's probably Klippel-Feil. (nm)
x
Klippel-Feil....nm
Subject: Klippel-Feil....nm
Klippel-Feil Syndrome. nm
Subject: Klippel-Feil Syndrome. nm
Klippel-Feil - found it. Thanks though. nm
Subject: Klippel-Feil - found it. Thanks though. nm
nm
Klippel-Feil syndrome
Subject: Klippel-Feil syndrome
Congenital - she says it again.
Subject: Congenital - she says it again.
Klippel-Trenaunay syndrome?..nm
Subject: Klippel-Trenaunay syndrome?..nm
xx
something anomaly?
Subject: something anomaly?
anomaly?
Subject: anomaly?
congenital provision
Subject: congenital provision
congenital s/l provision with a fixed pupil of the left eye.
congenital s/l cattract?
Subject: congenital s/l cattract?
9 yo with headaches.
ROS: Positive for a congenital cattract which does not require any intervension.
Yes, there are congenital cataracts.
Subject: Yes, there are congenital cataracts.
stab at it...anomaly?
Subject: stab at it...anomaly?
Try venous anomaly...
Subject: Try venous anomaly...
...as always, disclaimer about not being able to listen.
Peters' anomaly
Subject: Peters' anomaly
This is correct. It's a very rare congenital defect for which both parents carry the gene. My nephew has Peters' anomaly. He was born blind. He has undergone cornea transplant surgery 3 times. He's 15 now and has had multiple surgeries. He seems to have the full spectrum of medical conditions associated with Peters' anomaly. He still doesn't see well at all. He has glaucoma, cataracts, tracheomalacia (3 operations for this), nondescended testicles, and has a rod placed in his neck, to join his head and back together. Otherwise, he couldn't hold up his head. He's SUCH a great kid! Never complains about anything! He has lots of friends; in fact, he hasn't had to endure the teasing that some special-needs kids endure from their classmates. He's in a regular school and is very smart. I bet you didn't know you were going to get quite this much information when you asked about Peters' anomaly! I just happen to have a soft place in my heart for this condition. I've learned so much about it in the past 15 years.
Rare? Every clinic I do uses them. nm
Subject: Rare? Every clinic I do uses them. nm
nm
rare phrases-
Subject: rare phrases-
i come across this phrase-
A bit of impasse. Do not know right or wrong only two three enteries on google search
maybe congenital poor vision? nm
Subject: maybe congenital poor vision? nm
There is symphalangia (congenital deformity)
Subject: There is symphalangia (congenital deformity)
Yes, adults can have congenital cataracts.
Subject: Yes, adults can have congenital cataracts.
x
Might be Joubert's but it's supposed to be rare. nm
Subject: Might be Joubert's but it's supposed to be rare. nm
s
in urinalysis - s/l sperm rare
Subject: in urinalysis - s/l sperm rare
Never heard this before - male patient, UA - s/l sperm rare - anyone heard of sperm in a ua before?
Could it possibly be "vascular anomaly?" nm
Subject: Could it possibly be "vascular anomaly?" nm
x
is there such a thing as a s/l rare diverticula?
Subject: is there such a thing as a s/l rare diverticula?
Maybe Pelger-Huet anomaly
Subject: Maybe Pelger-Huet anomaly
Not certain, but on rare occasions I think I've seen 50 mg/act - sm
Subject: Not certain, but on rare occasions I think I've seen 50 mg/act - sm
listed for Flonase, which I *believe* means "per actuation."
rare blend thyroid cells?nm
Subject: rare blend thyroid cells?nm
NSA = no significant abnormality or no sign. anomaly. nm
Subject: NSA = no significant abnormality or no sign. anomaly. nm
rare gram-positive cocci?
Subject: rare gram-positive cocci?
anomaly? deviation from norm/irregularity etc? nm
Subject: anomaly? deviation from norm/irregularity etc? nm
Eli M. named a congenital syndrome - not a culdoplasty procedure nm
nm
congenital birth defect, peer roban???
Subject: congenital birth defect, peer roban???
The baby was there at 39 weeks gestation for congenital birth defects, possibly peer roban? although it is inconclusive at this time.
residual of Congenital talipes equinovarus (clubfoot) ?
Subject: residual of Congenital talipes equinovarus (clubfoot) ?
A search shows it's very rare to get this organism. Wouldn't use it
Subject: A search shows it's very rare to get this organism. Wouldn't use it
s
There is a Peter's anomaly/abnormality but that has to do with ocular problems?
Subject: There is a Peter's anomaly/abnormality but that has to do with ocular problems?
on the rare occasion that a dictator does say it that way, I type it that way (10.9 thousand)
Subject: on the rare occasion that a dictator does say it that way, I type it that way (10.9 thousand)
glucagonoma is a rare tumor of the alpha cells of the pancreas ?
Subject: glucagonoma is a rare tumor of the alpha cells of the pancreas ?
I think bowstrung tendon is an anomaly/problem, and not a tendon
Subject: I think bowstrung tendon is an anomaly/problem, and not a tendon
s
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