{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T01:28:01Z","timestamp":1790213281481,"version":"4.1.0"},"reference-count":28,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2003,7,14]],"date-time":"2003-07-14T00:00:00Z","timestamp":1058140800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2004,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Malformations and genetic disorders are the leading cause of infant mortality in the US. Many malformations have a genetic basis due to genic, chromosomal, or multifactorial causation. We have studied the proportion of pediatric cases in a university\u2010affiliated children's hospital that died of malformations and genetic disorders. We reviewed, retrospectively, deaths over a 4 year period (1994\u20131998) at Primary Children's Medical Center (PCMC), a university\u2010affiliated tertiary children's referral hospital in Utah. The age at death and the cause of death were recorded for each case. We analyzed 523 cases; 180 (34.4%) deaths were due to malformations and genetic disorders. Of those 180, 30 (16.7%) had chromosome anomalies, 21 (11.7%) had a recognizable malformation syndrome, 118 (65.6%) had a malformation of unknown cause, and 11 (6.1%) had some other genetic disorder. One hundred and twenty\u2010two (23.3%) deaths were due to trauma (accidental and non\u2010accidental). Seventy\u2010nine (15.1%) deaths were due to short gestation or perinatal complications. Forty\u2010five (8.6%) deaths were due to an infectious disease and 45 (8.6%) from neoplasms. Thirteen (2.5%) were diagnosed for sudden infant death \u201csyndrome.\u201d Twelve (2.3%) patients with malformations and\/or genetic disorders died of an acquired condition not clearly related to the underlying disorder. Seven (1.3%) patients died of an unknown cause and 20 (3.8%) patients died of other specified conditions. In addition, 51.0% patients (age &lt;1 year) died of a malformation and\/or genetic disorder. Genetic disorders and malformations are a substantial cause of mortality in a referral pediatric hospital. Knowledge of the impact of genetic diseases on mortality is important for the integration of preventive measures and health care strategies to care effectively for patients and their families. This information emphasizes the importance of further study of whether or not early recognition influences mortality rate and management. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20409","type":"journal-article","created":{"date-parts":[[2004,4,13]],"date-time":"2004-04-13T21:01:28Z","timestamp":1081890088000},"page":"393-397","source":"Crossref","is-referenced-by-count":64,"title":["Contribution of malformations and genetic disorders to mortality in a children's hospital"],"prefix":"10.1002","volume":"126A","author":[{"given":"David A.","family":"Stevenson","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John 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