Cri-du-chat syndrome
Abstract
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.
References
Syndrome: A Topical Overview. 5p Minus Society. Cited
2003 November 15. available from: url: http: //url
www.emedicine.com.
2. Chen Harold. Cri du chat syndrome. Cited 2005 May 20.
available from: url: http://www.emedicine.com/ped/.
3. Wiedemann HR, Kunze J, Grosse FR. Cri du chat syndrome.
In: Almond G, editor. Clinical syndrome. 3 rd ed. Mosby-
Wolfe; 1997. p. 102-3.
4. Smith DW, Jones KL. 5p- Syndrome. In: Markowitz M, editor.
Recognizable pattern of human malformations. London; WB
Saunder; 1982. p. 38-9.
5. Cornish K, Bramble D. Cri Du Chat (“cry of the catâ€)
Syndrome. Cited 2005 May 15. available from: url: http://
www..syndromes.htm..syndromes.htm.
6. Overhauser J, Huang X, Gersh M, Wilson W, McMahon J,
Benqtsson U, et al. Molecular and phenotypic mapping of
the short arm of chromosome 5: sub localization of the
critical region for the cri-du-chat syndrome. Human mol
genet 1994;3:247-52.
7. Gersh M, Goodart SA, Pasztor LM, Harris DJ, Weiss L, Overhauser
J. Evidence for a distinct region causing a cat like cry in patients
with 5p deletion. Am J Human Genet 1995;56:1404-10.
8. Baccichetti C, Lenzini E, Artifoni L, Caufin D, Marangoni P.
Terminal deletion of the short arm of chromosom 5. Clin
Genet. 1988;34:219-23.
Authors who publish with this journal agree to the following terms:
Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.
Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.
Accepted 2016-08-25
Published 2007-07-01
