A Case of Cri du Chat Syndrome with Developmental Delay Misdiagnosed as Fetal Alcohol Syndrome.
- Author:
Sol Ji NO
1
;
Dong Ouk KIM
;
Sang Min LEE
;
Jin Sook LEE
Author Information
1. Department of Pediatrics, Kawndong University College of Medicine, Gyeonggi-do, Korea. mickeyjin@naver.com
- Publication Type:Case Report
- Keywords:
Cri du Chat syndrome;
Developmental delay
- MeSH:
Arm;
Centers for Disease Control and Prevention (U.S.);
Chenodeoxycholic Acid;
Chromosomes, Human, Pair 5;
Cri-du-Chat Syndrome;
Fetal Alcohol Syndrome;
Humans;
Infant;
Intellectual Disability
- From:
Journal of the Korean Child Neurology Society
2012;20(1):23-27
- CountryRepublic of Korea
- Language:English
-
Abstract:
Cri du Chat syndrome (CdCS) is a chromosomal disease resulting from a deletion on the short arm of chromosome 5. Characteristic features include high pitched cat-like cry, distinguishing facial features, and mental retardation. Some cases have been reported in the Korean literature, but no case reports about the concrete aspects of developmental delay in CdCS patients have been published. Therefore, we report a CdCS patient with developmental delay who was misdiagnosed as fetal alcohol syndrome. The result of the Korean-Child Development Review and Sequenced Language Scale for Infants showed severe developmental retardation, especially in expressive language.
