Paediatrica Indonesiana (Jul 2007)

Cri-du-chat syndrome

  • Eka Agustia Rini,
  • R. Trin Suciati

DOI
https://doi.org/10.14238/pi47.3.2007.136-8
Journal volume & issue
Vol. 47, no. 3
pp. 136 – 8

Abstract

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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.

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