One hundred three consecutive patients with anorectal malformations and their associated anomalies
One hundred three consecutive patients with anorectal malformations and their associated anomalies
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DOI：
10.1001/archpedi.155.5.587
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发表时间：
2001-05-01
影响因子：
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通讯作者：
Fangman, T
中科院分区：
文献类型：
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作者：
Cho, S;Moore, SP;Fangman, T
目的：对103例小儿肛肠畸形（ARMs）进行长期回顾性分析，描述任何相关的先天性异常和手术分类。设计：回顾性病历回顾。背景：本病例系列是对在堪萨斯州威奇托3个主要医疗中心中的任何一个出生或转诊的所有患有ARMs的婴儿进行的，为期近22年。患者：本研究中的103名婴儿代表了ARMs患者的连续样本。将患者分为两组：无相关异常的孤立性ARMs （n=30）和相关异常的ARMs (n=73)，男女比例为2:1。主要观察指标：将相关异常患者进一步分为轻度异常组；主要异常;染色体异常;和畸形综合征，关联，或序列。只有不止一次发生的异常才被报道。畸形也根据主要器官系统分类。结果：在我们的研究中，ARMs的发生率约为1 / 2500。在71%的ARMs婴儿中发现了其他异常。主要器官系统相关异常包括泌尿生殖系统异常（49%）、肌肉骨骼异常（43%）、颅面异常（34%）、心血管异常（27%）、胃肠道异常（18%）、呼吸系统异常（13%）和中枢神经系统异常（12%）。最常见的染色体异常为三体（8%），ARMs与VATER复合物（椎体缺损、肛门闭锁、气管食管瘘伴食管闭锁、桡骨和肾脏异常）相关11例（11%），与VACTERL（椎体、肛门、心脏、气管、食管、肾脏和肢体异常）相关4例（4%）。结论：ARMs患者有较高的先天性畸形发生率。对这些婴儿中最常受影响的器官系统进行评估是必要的，因为正是这些相关的异常导致了与这种疾病相关的大部分发病率和死亡率。
Objective: A long-term retrospective analysis of 103 infants with anorectal malformations (ARMs) was con ducted to describe any associated congenital anomalies and surgical classifications.Design: Retrospective medical record review.Setting: This case series was conducted on all infants with ARMs born at, or referred to, any of 3 major medical centers in Wichita, Kan, for close to a 22-year period.Patients: The 103 infants in this study represent a consecutive sample of patients with ARMs. Patients were separated into 2 groups: isolated ARMs without associated anomalies (n=30), and ARMs with associated anomalies (n=73), The male-female ratio was 2:1.Main Outcome Measures: Patients with associated anomalies were further classified into groups of ARMs with minor anomalies; major anomalies; chromosomal abnormalities; and malformation syndromes, associations, or sequences. Only anomalies that occurred mure than once were reported. Malformations were also classified according to major organ systems.Results: The incidence of ARMs in our study was approximately 1 in 2500 live births. Additional anomalies were found in 71% of infants with ARMs. Associated anomalies by major organ system included genitourinary anomalies (49%), musculoskeletal anomalies (43%), craniofacial anomalies (34%), cardiovascular anomalies (27%), gastrointestinal anomalies (18%), respiratory anomalies (13%), and central nervous system anomalies (12%). The most common chromosomal abnormalities were trisomies (8%), and ARMs were associated with VATER complex (vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, and radial and renal anomalies) in 11 cases (11%) and VACTERL (vertebral, anal, cardiac, tracheal, esophageal, renal, and limb anomalies) in 4 cases (4%).Conclusions: Patients with ARMs have a high incidence of associated congenital anomalies. Evaluation of the most commonly affected organ systems in these infants is essential because it is these associated anomalies that account for most of the morbidity and mortality that is associated with this condition.