Patients with anorectal malformation and upper limb anomalies: genetic evaluation is warranted

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• 作者：Desiree van den Hondel ; Charlotte H. W. Wijers…
• 关键词：Anorectal malformation ; Anorectal atresia ; Upper extremity deformities ; congenital ; Syndrome ; VACTERL association
• 刊名：European Journal of Pediatrics
• 出版年：2016
• 出版时间：April 2016
• 年：2016
• 卷：175
• 期：4
• 页码：489-497
• 全文大小：367 KB
• 刊物主题：Pediatrics;
• 出版者：Springer Berlin Heidelberg
• ISSN：1432-1076

文摘

The objective of this study was to compare the prevalence of genetic disorders in anorectal malformation (ARM) patients with upper limb anomalies to that in ARM patients with other associated anomalies. A retrospective case study was performed in two pediatric surgery centers. All patients born between 1990 and 2012 were included. VACTERL (vertebral defects (V), anal atresia (A), cardiac malformations (C), tracheoesophageal fistula with esophageal atresia (TE), renal dysplasia (R), and limb anomalies (L)) was defined as at least three components present. We included 700 ARM patients: 219 patients (31 %) had isolated ARM, 43 patients (6 %) had a major upper limb anomaly, and 438 patients (63 %) had other associated anomalies. The most prevalent upper limb anomalies were radial dysplasia (n = 12) and hypoplastic thumb (n = 11). Ten of the 43 patients (23 %) with an upper limb anomaly were diagnosed with a genetic disorder—nine also met the VACTERL criteria—vs. 9 % of ARM patients with other anomalies (p = 0.004, chi-squared test).