CRI DU CHAT SYNDROME – CASE REPORT
Abstract
Background. The article describes a patient with
clinical features of the Cri du chat syndrome. The syndrome is
relatively rare chromosomal disorder caused by a deletion of
the tip of the short arm of chromosome 5. Cry that sounds like
the meowing of a cat, typical facial dysmorphism, primordial
growth deficiency and severe psychomotor retardation with
microcephaly and hypotonia are the hallmark clinical features.
Severity of the phenotype is associated with the extend of
the deletion, so FISH is indicated. A level of developmental delay
strongly correlates also with early special schooling and
supportive home environment.
Conclusions. The presented boy lives at home but he daily attends
social, verbal and motorical education in a medical institute.
In eleven months of schooling a big progress in psychomotor
development was achieved.
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References
without significant learning disability. Dev Med Child Neurol 1996; 38:
941–4.
2. Lejeune J, Lafourcade J, Berger R, Vialatta J, Boeswillwald M, Seringe P,
Turpin R. Trois ca de deletion partielle du bras court d’un chromosome 5. C.
R. Acad Sci 1963; 257: 3098–8.
3. Wiedemann HR, Kunze J, Grosse FR. Clinical syndromes. London: Times
Mirror International Publishers Limited, 1997: 102–3.
4. Jones KL. Smith’s recognizable patterns of human malformation. Philadelphia:
W. B. Saunders Company, 1988: 40–1.
5. Iyer SL, Duraiswamy A, Kher AS, Joshi S, Bharucha BA, Kanade S. Cry du chat
syndrome. Journal of Postgraduate Medicine 1996; 42: 86–8.
6. Kushwick T, Rao KW, Lamb AL. Familial 5p syndrome. Clin Gen 1984; 26:
472–6.
7. Hirschhorn K. Clinical abnormalities of the autosomes. In: Nelson WE,
Behrman RE, Kliegman RM, Arvin AM eds. Nelson tekxbook of pediatric,
14th ed. Philadelphia: W. B. Saunders, 1992: 287–9.
8. Cornish KM, Pigran J. Developmental and behavioural characteristics of cri
du chat syndrome. Arch Dis Child 1996; 75: 448–50.
9. Baccichetti C, Lenzini E, Artifoni L, Caufin D, Marangoni P. Terminal deletion
of the short arm of chromosome 5. Clin Gen 1988; 34: 219–23.
10. Pierart B, Remacle M. L’evolution d’un cas de syndrome du cri du chat.
Caracteristiques ORL, cognitives et langagieres. Folia Phoniatrica et Logopedica
1996; 48: 223–30.
11. Cornish KM, Munir F. Receptive and expressive language skills in children
with cri du chat syndrome. J Comm Dis 1998; 31: 73–80, 80–1.
12. Hodapp RM, Wijma CA, Masino LL. Families of children with 5p (cri du chat)
syndrome: familial stress and sibling reactions. Dev Med Child Neurol 1997;
39: 757–61.
13. Dykens EM, Clarke DJ. Correlates of maladaptive behavior in individuals
with 5p- (cri du chat) syndrome. Dev Med Child Neurol 1997; 39: 752–6.
14. Gersh M, Goodart SA, Pasztor LM, Harris DJ, Weiss L, Overhouser J. Evidence
for a distinct region causing a cat-like cry in patients with 5p deletions.
American J Hum Gen 1995; 56: 1404–10.
15. Simmons AD, Goodart SA, Gallardo TD, Overhauser J, Lovett M. Five novel
genes from the cri-du-chat critical region isolated by direct selection. Hum
Mol Gen 1995; 4 (2): 295–302.
16. Church DM, Bengtsson UI, Nielsen KV, Wasmuth JJ, Niebuhr E. Molecular
definition of deletions of different segments of distal 5p that result in
distinct phenotypic features. Am J Hum Gen 1995; 56: 1162–72.
17. Gersh M, Grady D, Rojas K, Lovett M, Moyzis R, Overhauser J. Development
of diagnostic toals for the analisis of 5p deletions using interphase FISH.
Cytogenetics Cell Genetics 1997; 77: 246–51.
18. Van Buggenhout GJ, Pijkels E, Holvoet M, Schaap C, Hamel BC, Fryns JP. Cri
du chat syndrome: changing phenotype in older patients. Am J Med Gen
2000; 90 (3): 203–15.
19. Marinescu RC, Johnson EI, Dykens EM, Hodapp RM, Overhauser J. No
relationship between the size of the deletion and the level of developmental
delay in cri-du-chat syndrome. Am J Med Gen 1999; 86 (1): 66–70.
20. Medina M, Marinescu RC, Overhauser J, Kosik KS. Hemizygosity of deltacatenin
(CTNND2) is associated with severe mental retardation in cri-duchat
syndrome. Genomics 2000; 63 (2): 157–64.
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