Tuesday, June 10, 2008

- Cri Du chat syndrome.

Cri Du chat syndrome

  • chromosome 5p deletion syndrome.
  • 5p minus syndrome.
  • Lejeune’s syndrome.
*Incidence:- rare.

results from deletion of the distal short arm of chromosome no 5 (1).

*Karyotype :-
(5p- means that the short arm of chromosome 5 is shorter than normal).

*Clinical picture:-
  • characteristic cry of affected infants, which is similar to that of cat ( i.e a high-pitched cry ) due to problems with the larynx and nervous system,about 1/3 of children lose the cry by age 2.
  • feeding problems because of difficulty swallowing and sucking.
  • low birth weight
  • growth retardation.
  • Mental retardation.
  • hypotonia.
  • microcephaly.
  • cardiac defects (eg, ventricular septal defect [VSD],atrial septal defect [ASD], patent ductus arteriosus [PDA], tetralogy of Fallot).

  • No specific treatment is available for this syndrome.
  • The mental retardation must be addressed.

Return to list of medical syndromes here

Principles of histology vol1,staff members ,faculty of medicine,mansoura university,ch3,p.g74.

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