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A Presentation on
CRI DU CHAT SYNDROME
By
Ernessto M
CRI DU CHAT SYNDROME
French English
CAT CRY SYNDROME
(Cry of Cat)
Jerome Le Jeune discovered in 1963
Due to Malformed Larynx
Life for a person with CRI DU CHAT is
difficult. They have problems in
speaking, being understood and
walking. It can be frustrating for them
and their families
Also Called the 5p Deletion Syndrome
The terminal microdeletion
of 5p during Methaphase I caused
due to unequal recombination
Chromosome 5 accounts for
about 181 million DNA building blocks
& represents almost 6% of DNA in cells
Facts about CRY DU CHAT
PDT
1/3 of the children loose the cry by the age of 2
Few children suffer from heart defects
Normal life span with lifelong physical & developmental problem
► Prevalence
► Diagnosis
► Treatment
Few more facts………
PDT
The long term outlook depends upon the childs symptoms severity
Some affected kids die at age 1
Few children may have a worse prognosis
► Prevalence
► Diagnosis
► Treatment
Prevalence
PDT
1 in 50,000 babies are born with this disorder
Women are more likely to be affected
90% no occurance from patients family only 10% inherited cases
► Prevalence
► Diagnosis
► Treatment
Diagnosis
PDT
Fluorescence In Situ Hybridization
Chorionic Villus Sampling
Amino fluid Sampling
► Prevalence
► Diagnosis
► Treatment
Treatment
PDT
Sadly there is no cure for CRI DU CHAT SYNDROME
Treatments include Physio and Occupational Therapy
Speech Therapy Remedial Special Education Services

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Cri du chat syndrome

  • 1. A Presentation on CRI DU CHAT SYNDROME By Ernessto M
  • 2.
  • 3. CRI DU CHAT SYNDROME French English CAT CRY SYNDROME (Cry of Cat) Jerome Le Jeune discovered in 1963 Due to Malformed Larynx
  • 4. Life for a person with CRI DU CHAT is difficult. They have problems in speaking, being understood and walking. It can be frustrating for them and their families
  • 5. Also Called the 5p Deletion Syndrome The terminal microdeletion of 5p during Methaphase I caused due to unequal recombination Chromosome 5 accounts for about 181 million DNA building blocks & represents almost 6% of DNA in cells
  • 6.
  • 7.
  • 8. Facts about CRY DU CHAT PDT 1/3 of the children loose the cry by the age of 2 Few children suffer from heart defects Normal life span with lifelong physical & developmental problem
  • 9. ► Prevalence ► Diagnosis ► Treatment Few more facts……… PDT The long term outlook depends upon the childs symptoms severity Some affected kids die at age 1 Few children may have a worse prognosis
  • 10. ► Prevalence ► Diagnosis ► Treatment Prevalence PDT 1 in 50,000 babies are born with this disorder Women are more likely to be affected 90% no occurance from patients family only 10% inherited cases
  • 11. ► Prevalence ► Diagnosis ► Treatment Diagnosis PDT Fluorescence In Situ Hybridization Chorionic Villus Sampling Amino fluid Sampling
  • 12. ► Prevalence ► Diagnosis ► Treatment Treatment PDT Sadly there is no cure for CRI DU CHAT SYNDROME Treatments include Physio and Occupational Therapy Speech Therapy Remedial Special Education Services