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- W2980495928 abstract "Early diagnosis of Turner syndrome enhances care, but in routine practice, even within larger referral centers, diagnosis is delayed. Our study examines the utility of an electronic health record algorithm in identifying patients at high risk for Turner syndrome. Six percent of those identified had missed diagnoses of Turner syndrome. Early diagnosis of Turner syndrome enhances care, but in routine practice, even within larger referral centers, diagnosis is delayed. Our study examines the utility of an electronic health record algorithm in identifying patients at high risk for Turner syndrome. Six percent of those identified had missed diagnoses of Turner syndrome. Algorithm-driven electronic health record notification enhances detection of Turner syndromeThe Journal of PediatricsVol. 216PreviewCauses for short stature in females are numerous; Turner syndrome is among the commoner etiologies. A simple blood test, array comparative genomic hybridization (aCGH, commonly called microarray) or karyotype, can typically identify partial or complete absence of the second sex chromosome. Chromosome analysis has been a standard recommendation in evaluating idiopathic proportional short stature in females (J Clin Endocrinol Metab 2008;93:4210–7) (Genet Med 2009;11:465–70). In this volume of The Journal, Alexandrou et al used an algorithm-driven review of electronic health records (EHRs) to identify 216 females with idiopathic short stature, of which 72 females had never received chromosome analysis. Full-Text PDF" @default.
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- W2980495928 date "2020-01-01" @default.
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- W2980495928 title "Algorithm-Driven Electronic Health Record Notification Enhances the Detection of Turner Syndrome" @default.
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- W2980495928 doi "https://doi.org/10.1016/j.jpeds.2019.09.023" @default.
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