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Characteristics
The most defining physical trait is the one originally noted by the disease's primary describer, Jerome Lejune--the high monotone cat-like cry of the infant. The baby's voice will naturally deepen as they age, but the high pitch often persists into adulthood.
www.orpha.net/data/patho/GB/uk-criduchat.pdf
Other traits exist, but each not every child will have every feature. The severity of the disease is highly variable from patient to patient, but most will have these major traits. Other traits may also appear, and some manifest as the child ages.
Major Defining Traits
- monotone, weak, cat-like cry
- small head (microcephaly)
- distinctive palmar creases
- high palate
- round face
- small, receding chin (micrognathia)
- widely spaced eyes (hypertelorism)
- low set ears
- broad nasal ridge
- epicanthic folds
Other Traits That May Occur
- minor skeleton problems
- heart defects
- hernias (present at birth)
Problems That Emerge As The Child Ages
- hearing loss
- visual issues
- dental problems
- failure to thrive (not interested in eating, severe acid reflux, etc.)
Despite all these setbacks, cri du chat life span is considered normal. If there are no major organ failures or medical conditions, the patient will live a long, happy life.
Palmar crease of a cri du chat baby Adult Patient Infant Patient
http://en.wikipedia.org/wiki/File:Simian_crease2.jpg myyellowwood.com/?m=200901 www.criduchat.asn.au/criduchat/Harvey.htm
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Comments (2)
rryoung@... said
at 10:04 am on Oct 29, 2009
You should be able to find MORE pictures of specific symptoms. OR, find a website that gives visuals for them. For example, the only link on this page resides on the cat-like cry, which is good. But, you probaby need more depth.
Nathan Jeffers said
at 10:36 am on Nov 4, 2009
Adding the "cry of the cat sound" really adds to your wiki in understanding other impaired physical abilities besides like the way they look.
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