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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doaj-330240126e514826975b6af87bb6bd552020-11-24T23:53:30ZengIndonesian Pediatric Society Publishing HousePaediatrica Indonesiana0030-93112338-476X2007-07-01473136810.14238/pi47.3.2007.136-8256Cri-du-chat syndromeEka Agustia RiniR. Trin SuciatiCri-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.https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/360Cri-du-chat syndrome |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Eka Agustia Rini R. Trin Suciati |
spellingShingle |
Eka Agustia Rini R. Trin Suciati Cri-du-chat syndrome Paediatrica Indonesiana Cri-du-chat syndrome |
author_facet |
Eka Agustia Rini R. Trin Suciati |
author_sort |
Eka Agustia Rini |
title |
Cri-du-chat syndrome |
title_short |
Cri-du-chat syndrome |
title_full |
Cri-du-chat syndrome |
title_fullStr |
Cri-du-chat syndrome |
title_full_unstemmed |
Cri-du-chat syndrome |
title_sort |
cri-du-chat syndrome |
publisher |
Indonesian Pediatric Society Publishing House |
series |
Paediatrica Indonesiana |
issn |
0030-9311 2338-476X |
publishDate |
2007-07-01 |
description |
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. |
topic |
Cri-du-chat syndrome |
url |
https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/360 |
work_keys_str_mv |
AT ekaagustiarini criduchatsyndrome AT rtrinsuciati criduchatsyndrome |
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1725469300988313600 |