Cri-du-chat syndrome

  • Eka Agustia Rini
  • R. Trin Suciati
DOI: https://doi.org/10.14238/pi47.3.2007.136-8
Keywords: Cri-du-chat syndrome

Abstract

Cri-du-chat syndrome (CDCS) is a rare chromosomal disorder, refers to a unique combination of physical and mental characteristics associated with a loss of genetic material on the distal short arm of the fifth chromosome.1 The incidence of CDCS is between 1:25,000 to 1:50,000 births. The prevalence among individuals with mental retardation is about 1.5 in 1000.2 A significant female predominance exists in affected newborns, with a male-to-female ratio of 0.72.2


Subtle dysmorphism with neonatal complications and a high-pitched cry typically initiate diagnostic evaluation by cytogenetic studies. 2,3 Currently,
there is no cure for cri-du-chat syndrome. The most successful approach in the management of children with CDCS requires a multidisciplinary team approach. 4 The case presented below will remind us how to reveal, suspect and diagnose Cri-Du-Chat syndrome, a rare case in pediatric.

Author Biographies

Eka Agustia Rini
Department of Child Health, Medical School, Andalas
University, M Jamil Hospital, Padang, Indonesia.
R. Trin Suciati
Department of Child Health, Medical School, Andalas
University, M Jamil Hospital, Padang, Indonesia.

References

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Published
2007-07-01
How to Cite
1.
Rini E, Suciati R. Cri-du-chat syndrome. PI [Internet]. 1Jul.2007 [cited 25Nov.2024];47(3):136-. Available from: https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/360
Issue
Vol 47 No 3 (2007): May 2007
Section
Case Report

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Received 2016-08-25
Accepted 2016-08-25
Published 2007-07-01