A Case of Cri du Chat Syndrome with Developmental Delay Misdiagnosed as Fetal Alcohol Syndrome
2
조회
0
다운로드
1
인용
0
참고문헌
키워드
초록
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.
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.
참고문헌 (12)
- Higurashi M, "Livebirths prevalence and follow-up of malformation syndromes in 27,472 newborns", Brain Dev, 12, pp.770~773 (1990)
- Niebuhr E, "The cri du chat syndrome: epidemiology, cytogenetics, and clinical features", Human Genetics, 44, pp.227~275 (1978)
- Dobbs M, "Molecular analysis of a case of meiotic recombination leading to cri-du-chat syndrome", Cytogenet Cell Genet, 47, pp.5~7 (1988)
- Campbell, D., "Cri Du Chat Syndrome: A topical overview" (2004), 5P- Society Publication
- Kenneth L Jones, "The fetal alcohol syndrome", Teratology, 12, pp.1~10 (1975)
- Marinescu RC, "Growth charts for cri-du-chat syndrome: an international collaborative study", Am J Med Genet, 94, pp.153~162 (2000)
- Campbell D J, "Early development of individuals with cri du chat syndrome", doctor, pp.2002
- Cornish KM, "Receptive and expressive language skills in children with cri du chat syndrome", J Commun Disord, 31, pp.73~80 (1998)
- Cornish KM, "Cognitive functioning in children with typical cri du chat (5p-) syndrome", Dev Med Child Meurol, 4, pp.263~266 (1999)
- Wilkins LE, "Psychomotor development in 65 home-reared children with cri du chat syndrome", J Pediatr, 97, pp.401~405 (1980)
- Carlin ME, "The improved prognosis in cri-duchat (5p-) syndrome", Proceedings of the 8th congress of International Association for the Scientific Study of Mental Deficiency, pp.64~73 (1990), International Association for the Scientific Study of Mental Deficiency
- Cornish KM, "Developmental and behavioural characteristics of cri du chat syndrome", Arch Dis Child, 75, pp.448~450 (1996)