{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T01:29:16Z","timestamp":1792718956318,"version":"4.5.0"},"reference-count":20,"publisher":"American Academy of Pediatrics (AAP)","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2006,5,1]]},"abstract":"<jats:p>OBJECTIVES. To analyze the cases submitted to the Pediatric Cardiac Care Consortium (PCCC) database from 1982 to 2002 to determine the frequency and distribution of congenital heart disease (CHD) found in this population, to review the literature for previously published accounts of CHD in this population, and to review current genotype-phenotype associations for cri du chat (CDC) syndrome with CHD.<\/jats:p><jats:p>METHODS. We performed a retrospective review of the 98422 CHD cases submitted to the PCCC between 1982 and 2002, to find patients who had a noncardiac diagnosis of CDC syndrome.<\/jats:p><jats:p>RESULTS. A total of 21 patients (15 female and 6 male patients) were identified. Although some patients had multiple cardiac anomalies, they were categorized according to primary diagnoses on the basis of the most hemodynamically significant component. The patient groups were ventricular septal defect (n = 6), patent ductus arteriosus (n = 6), tetralogy of Fallot (n = 5), pulmonary valve atresia with ventricular septal defect (n = 2), pulmonary valve stenosis (n = 1), and double-outlet right ventricle (n = 1). Eighteen of the 21 patients underwent surgical repair of their defects. There was 1 late operative death. To determine whether the observed frequency of these cardiac defects among patients with CDC syndrome was comparable to that of the general population of patients with CHD, data for all cases submitted to the PCCC from 1982 to 2002 were used. Use of these numbers to determine expected frequencies for these defects showed significantly greater proportions of patients with these specific lesions among the patients with CDC syndrome.<\/jats:p><jats:p>CONCLUSIONS. Currently there is no clear understanding of the genomic cause of the prevalence of these defects in the population with CDC syndrome, although CHD has been noted among patients with other deletion syndromes.<\/jats:p>","DOI":"10.1542\/peds.2005-1012","type":"journal-article","created":{"date-parts":[[2006,4,4]],"date-time":"2006-04-04T00:33:53Z","timestamp":1144110833000},"page":"e924-e927","source":"Crossref","is-referenced-by-count":40,"title":["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"],"prefix":"10.1542","volume":"117","author":[{"given":"Christine","family":"Hills","sequence":"first","affiliation":[{"name":"Departments of Pediatrics"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James H.","family":"Moller","sequence":"additional","affiliation":[{"name":"Pediatric Cardiology"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marsha","family":"Finkelstein","sequence":"additional","affiliation":[{"name":"Pediatric Genetics and Metabolism, University of Minnesota, Minneapolis, Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jamie","family":"Lohr","sequence":"additional","affiliation":[{"name":"Pediatric Cardiology"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa","family":"Schimmenti","sequence":"additional","affiliation":[{"name":"Center for Care Innovation and Research, Children's Hospitals and Clinics of Minnesota, Minneapolis, Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"417","published-online":{"date-parts":[[2006,5,1]]},"reference":[{"key":"2021120823241046400_R1","unstructured":"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.\u20081963;257:3098\u20133102"},{"key":"2021120823241046400_R2","doi-asserted-by":"crossref","unstructured":"Niebuhr E. The cri-du-chat syndrome: epidemiology, cytogenetics, and clinical features. Hum Genet.\u20081978;44:227\u2013275","DOI":"10.1007\/BF00394291"},{"key":"2021120823241046400_R3","doi-asserted-by":"crossref","unstructured":"Higurashi M, Oda M, Iijima K, et al. Livebirths prevalence and follow-up of malformation syndromes in 27,472 newborns. Brain Dev.\u20081990;12:770\u2013773","DOI":"10.1016\/S0387-7604(12)80004-0"},{"key":"2021120823241046400_R4","doi-asserted-by":"crossref","unstructured":"Gordon RR, Cooke P. Facial appearance in cri du chat syndrome. Dev Med Child Neurol.\u20081968;10:69\u201376","DOI":"10.1111\/j.1469-8749.1968.tb02840.x"},{"key":"2021120823241046400_R5","doi-asserted-by":"crossref","unstructured":"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.\u20081994;3:247\u2013252","DOI":"10.1093\/hmg\/3.2.247"},{"key":"2021120823241046400_R6","doi-asserted-by":"crossref","unstructured":"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.\u20082001;38:151\u2013158","DOI":"10.1136\/jmg.38.3.151"},{"key":"2021120823241046400_R7","unstructured":"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.\u20081995;56:1404\u20131410"},{"key":"2021120823241046400_R8","doi-asserted-by":"crossref","unstructured":"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.\u20082005;76:312\u2013326","DOI":"10.1086\/427762"},{"key":"2021120823241046400_R9","doi-asserted-by":"crossref","unstructured":"Pierpont MEM. Genetic etiology of genetic syndromes. Prog Pediatr Cardiol.\u20081996;6:29\u201341","DOI":"10.1016\/1058-9813(96)00169-5"},{"key":"2021120823241046400_R10","doi-asserted-by":"crossref","unstructured":"Wilkins LE, Brown JA, Nance W, Wolf B. Clinical heterogeneity in 80 home-reared children with cri-du-chat syndrome. J Pediatr.\u20081983;102:528\u2013533","DOI":"10.1016\/S0022-3476(83)80179-6"},{"key":"2021120823241046400_R11","unstructured":"Iyer SL, Duraiswamy A, Kher AS, Joshi S, Bharucha BA, Kanade S. Cri du chat syndrome. J Postgrad Med.\u20081996;42:86\u201388"},{"key":"2021120823241046400_R12","unstructured":"Tullu MS, Muranjan MN, Sharma SV, et al. Cri-du-chat syndrome: clinical profile and prenatal diagnosis. J Postgrad Med.\u20081998;44:101\u2013104"},{"key":"2021120823241046400_R13","doi-asserted-by":"crossref","unstructured":"McCracken JS, Gordon RR. Cri du chat syndrome: a new clinical and cytogenetic entity. Lancet.\u20081965;1:23","DOI":"10.1016\/S0140-6736(65)90926-8"},{"key":"2021120823241046400_R14","doi-asserted-by":"crossref","unstructured":"Taylor WG, McIntosh AS. A case of cri du chat syndrome. Br J Clin Pract.\u20081990;44:424\u2013425","DOI":"10.1111\/j.1742-1241.1990.tb10885.x"},{"key":"2021120823241046400_R15","doi-asserted-by":"crossref","unstructured":"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.\u20081991;39:391\u2013395","DOI":"10.1002\/ajmg.1320390405"},{"key":"2021120823241046400_R16","doi-asserted-by":"crossref","unstructured":"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.\u20082003;112(6). Available at: www.pediatrics.org\/cgi\/content\/full\/112\/6\/e472","DOI":"10.1542\/peds.112.6.e472"},{"key":"2021120823241046400_R17","doi-asserted-by":"crossref","unstructured":"Bao Z-Z, Bruneau BG, Seidman JG, Seidman CE, Cepko CL. Irx4 regulates chamber-specific gene expression in the developing heart. Science.\u20081999;283:1161\u20131164","DOI":"10.1126\/science.283.5405.1161"},{"key":"2021120823241046400_R18","doi-asserted-by":"crossref","unstructured":"Bruneau BG, Bao Z-Z, Fatkin D, et al. Cardiomyopathy in Irx4-deficient mice is preceded by abnormal ventricular gene expression. Mol Cell Biol.\u20082001;21:1730\u20131736","DOI":"10.1128\/MCB.21.5.1730-1736.2001"},{"key":"2021120823241046400_R19","unstructured":"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"},{"key":"2021120823241046400_R20","unstructured":"UCSC Genome Informatics. Genome Browser. Available at: http:\/\/genome.ucsc.edu"}],"container-title":["Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/117\/5\/e924\/1071333\/zpe0050600e924.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/117\/5\/e924\/1071333\/zpe0050600e924.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,6]],"date-time":"2023-05-06T22:41:07Z","timestamp":1683412867000},"score":1,"resource":{"primary":{"URL":"https:\/\/publications.aap.org\/pediatrics\/article\/117\/5\/e924\/70000\/Cri-du-Chat-Syndrome-and-Congenital-Heart-Disease"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,5,1]]},"references-count":20,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2006,5,1]]},"published-print":{"date-parts":[[2006,5,1]]}},"URL":"https:\/\/doi.org\/10.1542\/peds.2005-1012","relation":{},"ISSN":["0031-4005","1098-4275"],"issn-type":[{"value":"0031-4005","type":"print"},{"value":"1098-4275","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,5,1]]}}}