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Diagnosed in 2007
Kabuki syndrome
http://www.kabukisyndrome.com/
Journey to a
diagnosis
We recently went to the National Institute
of Health to participate in a genome study for Bardet-Beidle
Syndrome(Conner's given diagnosis 2006). However the doctors
there almost from the first day doubted this diagnosis was
correct. They have been following a group of BBS patients' for 3
yrs now and Conner did not fit the syndrome manifestations as
they had seen them. They did however make up a case file for
Conner and sent it out to several different Geneticists at other
Hospitals and received an immediate response. They called us
back by phone 1 week after we left and told us they were 99%
sure they had a correct diagnosis for Conner. The syndrome is
called Kabuki syndrome and Conner fits it to the tee.
I think they have found it! So for now that is his official
diagnosis.
Features &
Characteristics
- Face
- -
Micrognathia
- Flattened facial features with a wide
bridged nose
- Eyes
- -
lachrymal dilatation (tear duct)
surgeries
-
- Ears
- - He has
had almost chronic Otitis Media with
hearing loss and perforated eardrums due
to fluid build up and had tubes placed
7/04 but is still experiencing hearing
loss
- - Several set of PE tubes.
- Mouth
- - high
arched palate
-
- Voice
- - He has a very high pitched voice and does a lot
of screaming when he is excited or frustrated
-
- Skin
- - He also
has a sacral dimple
- Upper
Limb
- -
(Clinodactyly) distal 5th fingers are
starting to turn inward
- Lower
Limb
- -
Shortened 2nd toe on both feet
- Alimentary
Tract
- - Pharynx
is there but not forming correctly
- Urinary
Tract / Renal Function
- - He has
had a Lt sided partial Nephrectomy Due to
an obstructed Duplicated Lt upper
renal pole, and Drs are still watching
the Rt kidney which is most likely the
same scenario
- Cardiac
- - Rt
sided Aortic Arch (Cardiovascular defect)
- Neurological
Functional
- - Hypotonic
- -
Hyperactive
-
- Development
- - Delayed
motor development and Speech
-
- Feeding
- - Conner does not eat well and drinks
Pediasure supplements 3x daily to keep
his weight up, and still spits up a lot
witch I attributed to reflux, however a
UGI Barrium swallow was negative for
this.
-
- Personality
- - Very social
-
- Misc
- - He
sleeps often with his eyes open
- Laboratory
Test and Findings
- - Thyroid
Study (negative)
- - Lead
Screening (negative)
- -
Williams Syndrome (negative)
- - High
Definition Chromosomal Study (normal)
Contact: Gina mom to
Conner at dar276@sbcglobal.net
Any
troubles with e-mails send to amy76jo@yahoo.com
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