Cri-du-chat syndrome

• Main Authors: Eka Agustia Rini, R. Trin Suciati
• Format: Article
• Language: English
• Published: Indonesian Pediatric Society Publishing House 2007-07-01
• Series: Paediatrica Indonesiana
• Subjects: Cri-du-chat syndrome
• Online Access: https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/360

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.