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| CASE REPORT |
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| Year : 1996 | Volume
: 42
| Issue : 3 | Page : 86-8 |
Cri du chat syndrome.
SL Iyer, AA Duraiswamy, AS Kher, SS Joshi, BA Bharucha, SS Kanade
Department of Paediatrics, Seth GS Medical College and KEM Hospital, Parel, Mumbai.
Correspondence Address:
S L Iyer
Department of Paediatrics, Seth GS Medical College and KEM Hospital, Parel, Mumbai.
 Source of Support: None, Conflict of Interest: None  | Check |
PMID: 0009715326 
Three cases of cri du chat syndrome with varying ages of presentation are compared and contrasted to highlight the clinical features and evolution of the phenotype with time.
Keywords: Case Report, Chromosome Deletion, Chromosomes, Human, Pair 5, Cri-du-Chat Syndrome, diagnosis,genetics,pathology,physiopathology,Disease Progression, Human, Infant, Infant, Newborn, Karyotyping, Phenotype, Time Factors,
How to cite this article:
Iyer S L, Duraiswamy A A, Kher A S, Joshi S S, Bharucha B A, Kanade S S. Cri du chat syndrome. J Postgrad Med 1996;42:86 |
The cri-du-chat syndrome is a relatively rare chromosomal disorder resulting from loss of varying lengths of short arm of chromosome 5. The phenotype presents several distinctive features readily identifiable clinically and which can be confirmed by karyotype. Three cases of cri du chat syndrome with varying ages and clinical features at the time of detection are reported.
3 patients, aged 18 days, 6 months and 14 months (A, B and C respectively) were seen in the Genetic Clinic for the following clinical complaints. 'A' had poor feeding and dysmorphic features with high pitched cry; 'B' had failure to thrive, poor feeding and frequent respiratory tract infections and 'C' had dysmorphic features and congenital heart disease.
[Table - 1] shows the clinical features of the cri du chat syndrome along with the percentage of occurrence of the features from published literature[1]. The clinical features noted in our patient is tabulated alongside.
Cri du chat syndrome was first described by Lejeune in 1963. It has an incidence of 1: 20,000. 2 and accounts for 1% of severely mentally retarded individuals. It results from loss of varying lengths of chromosomal material from the short arm of chromosome 5[2]. The critical segment for production of the phenotype is 5p 15. 88% of cases are produced by de novo deletion of material, unbalanced translocation or the formation of a ring chromosome: all involving chromosome 5. 10-15% of cases have parental origin: the common aberration being balanced translocation or pericentric inversion involving chromosome 5. Rarely a parental deletion may be found[3]. All 3 patients had partial deletion of short arm chromosome 5. The exact segment of deletion were 5p13-15, 5p13-15 and Spl - ter respectively in patients A, B and C. Features not described in association with Cri du chat syndrome but found in our patients were long fingers in patient A; cutis marmorata in patient B and hirsutism and hypoplastic external genitalia in patient C. Each patient had a different congenital heart disease, ostium secundum ASD and perimembranous VSD, ostium primum ASD and inlet VSD and muscular and perimembranous VSD in patients A, B. C respectively. Evolution of the phenotype in cri du chat syndrome consists of disappearance of the characteristic cry (as in patient C) and disappearance of round facies and decrease in the degree of hypotonia. The round facies found in patients A and B in infancy is contrasted with the long narrow facies in the older patient C.
Conversely mental retardation and microcephaly become manifest with time. Survival into adult life is common but life span is reduced and likely to be influenced by the associated heart disease[3]. Recent reports suggest that special training is likely to limit the retardation.
The authors wish to thank the Dean, Dr. P M Pai for giving us permission to publish this article. We also thank Ms. Vidya, Anatomy Department. JJ Hospital and Dr S V Kotwalivale, Mumbai for doing the chromosomal analysis of patient C and A respectively.
| :: References | |  |
| 1. |  |
| 2. | Jones KL (Editor). Smith's Recognisable Patterns of Human Malformation IVth Edition. WB Saunders; 1984, pp 40-41. |
| 3. | Buyse MI (Editor). Brith Defects Encyclopedia, Centre for Birth Defects Information Service 1990, pp 338-339. |
| 4. | Kushwick T, Rao KW, Lamb AL. Familial 5p syndrome. Clinical Genetics 1984; 26:472-476 |
| 5. | AEH Emery and DL Rimoin. Principles and Practice of Medical Genetics. Edinburg: Churchill Livingstone; 1983, Vol 1, Chapter 15, pp 186-187. |
| 6. | Wilkins LE, Nance WE. Clinical heterogeneity in 80 homereared children with cri du chat syndrome. J Pediatr 1983; 102:528-533. |
Figures
[Figure - 1], [Figure - 2] Tables
[Table - 1]
| This article has been cited by | | 1 |
Cri du chat syndrome and congenital heart disease: A review of previously reported cases and presentation of an additional 21 cases from the pediatric cardiac care consortium |
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| Hills C, Moller JH, Finkelstein M, et al. | | PEDIATRICS. 2006; 117 (5): E924-E927 | | [Pubmed] | | | 2 |
Cri-du-chat Syndrome : Clinical profile and prenatal diagnosis |
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| Tullu, M.S., Muranjan, M.N., Sharma, S.V., Sahu, D.R., Swami, S.R., Deshmukh, C.T., Bharucha, B.A. | | Journal of Postgraduate Medicine. 1998; 44(4): 101-104 | | [Pubmed] | |
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