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

Pediatrics

Volumn 117, Issue 5, 2006, Pages

  Hills, Christine ^a,d   Moller, James H ^b   Finkelstein, Marsha ^c   Lohr, Jamie ^a   Schimmenti, Lisa ^b  

^a UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^b UNIVERSITY OF MINNESOTA   (United States)

^c CHILDREN S HOSPITALS AND CLINICS OF MINNESOTA   (United States)

^d NONE   (United States)

Author keywords

Congenital heart disease; Genetics; Genotype phenotype correlation

Indexed keywords

CAT CRY SYNDROME; CHROMOSOME DELETION; CONGENITAL HEART DISEASE; CORONARY CARE UNIT; DATA BASE; DISEASE ASSOCIATION; FALLOT TETRALOGY; GENOTYPE; HEART CATHETERIZATION; HEART HEMODYNAMICS; HEART RIGHT VENTRICLE DOUBLE OUTLET; HEART VENTRICLE SEPTUM DEFECT; HUMAN; MORBIDITY; OUTCOME ASSESSMENT; PATENT DUCTUS ARTERIOSUS; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; PULMONARY VALVE ATRESIA; PULMONARY VALVE STENOSIS; REVIEW; STATISTICAL ANALYSIS; ARTICLE; CHILD; CONGENITAL HEART MALFORMATION; FEMALE; MALE; PRESCHOOL CHILD;

CHILD; CHILD, PRESCHOOL; CRI-DU-CHAT SYNDROME; FEMALE; HEART DEFECTS, CONGENITAL; HUMANS; MALE;

EID: 33646833047     PISSN: 00314005     EISSN: 02105721     Source Type: Journal    
DOI: 10.1542/peds.2005-1012     Document Type: Review

References (20)

1. Lejeune J, Lafourcade J, Berger R, et al. Three cases of partial deletion of the short arm of chromosome 5 [in French]. C R Hebd Seances Acad Sci. 1963;257:3098-3102
2. Niebuhr E. The cri-du-chat syndrome: epidemiology, cytogenetics, and clinical features. Hum Genet. 1978;44:227-275
3. Higurashi M, Oda M, Iijima K, et al. Livebirths prevalence and follow-up of malformation syndromes in 27,472 newborns. Brain Dev. 1990;12:770-773
4. Gordon RR, Cooke P. Facial appearance in cri du chat syndrome. Dev Med Child Neurol. 1968;10:69-76
5. Overhauser J, Huang X, Gersh M, et al. Molecular and phenotypic mapping of the short arm of chromosome 5: sublocalization of the critical region for the cri-du-chat syndrome. Hum Mol Genet. 1994;3:247-252
6. Cerruti Mainardi P, Perfumo C, Cali A, et al. Clinical and molecular characterization of 80 patients with 5p deletion: genotype-phenotype correlation. J Med Genet. 2001;38:151-158
7. Gersch 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 deletions. Am J Hum Genet. 1995;56:1404-1410
8. Zhang X, Snijders A, Segraves R, et al. High-resolution mapping of genotype-phenotype relationships in cri du chat syndrome using array comparative genomic hybridization. Am J Hum Genet. 2005;76:312-326
9. Pierpont MEM. Genetic etiology of genetic syndromes. Prog Pediatr Cardiol. 1996;6:29-41
10. Wilkins LE, Brown JA, Nance W, Wolf B. Clinical heterogeneity in 80 home-reared children with cri-du-chat syndrome. J Pediatr. 1983;102:528-533
11. Iyer SL, Duraiswamy A, Kher AS, Joshi S, Bharucha BA, Kanade S. Cri du chat syndrome. J Postgrad Med. 1996;42:86-88
12. Tullu MS, Muranjan MN, Sharma SV, et al. Cri-du-chat syndrome: clinical profile and prenatal diagnosis. J Postgrad Med. 1998;44:101-104
13. McCracken JS, Gordon RR. Cri du chat syndrome: a new clinical and cytogenetic entity. Lancet. 1965;1:23
14. Taylor WG, McIntosh AS. A case of cri du chat syndrome. Br J Clin Pract. 1990;44:424-425
15. Romano C, Ragusa RM, Scillato F, Greco D, Amato G, Barletta C. Phenotypic and phoniatric findings in mosaic cri du chat syndrome. Am J Med Genet. 1991;39:391-395
16. McElhinney DB, Driscoll DA, Levin ER, Jawad AF, Emanuel S, Goldmuntz E. Chromosome 22q11 deletion in patients with ventricular septal defect: frequency and associated cardiovascular anomalies. Pediatrics. 2003;112(6). Available at: www.pediatrics.org/cgi/content/full/112/6/e472
17. Bao Z-Z, Bruneau BG, Seidman JG, Seidman CE, Cepko CL. Irx4 regulates chamber-specific gene expression in the developing heart. Science. 1999;283:1161-1164
18. Bruneau BG, Bao Z-Z, Fatkin D, et al. Cardiomyopathy in Irx4-deficient mice is preceded by abnormal ventricular gene expression. Mol Cell Biol. 2001;21:1730-1736
19. Schimmenti L, Hirsch B, Iyadurai K, et al. Low copy repeat (LCR) associated 10q rearrangements affecting developmental delay and autism. Presented at the American Society of Human Genetics Meeting; October 28, 2004; Toronto, Canada
20. UCSC Genome Informatics. Genome Browser. Available at: http://genome.ucsc.edu