Cri-du-chat syndrome
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...
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| Main Authors: | , |
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| Format: | Book |
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Indonesian Pediatric Society Publishing House,
2007-07-01T00:00:00Z.
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| Summary: | 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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| Item Description: | 0030-9311 2338-476X 10.14238/pi47.3.2007.136-8 |