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Objective <p>To propose a morphologic–phenotypic stratification and investigate the radiological characteristics for the patients with anorectal malformation (ARM) associated with congenital spinal deformities.</p> Methods <p>A retrospective review was conducted on ARM patients who had received treatment in the neonatal surgery department of our hospital from January 2008 to December 2022. A total of 86 patients diagnosed with spinal deformities were enrolled, including 49 males and 37 females. We classified the patients included into three groups according to the range vertebral anomalies involving: Group Ⅰ: Patients with thoracic/lumbar vertebral anomalies but no sacral agenesis (SA). Group Ⅱ: Patients with isolated SA. Group Ⅲ: Patients with both SA and thoracic/lumbar vertebral anomalies. Their demographic characteristics, ARM type, type and location of the vertebral anomalies, sacral agenesis and rib anomalies, and concomitant defects of other systems were analyzed.</p> Results <p>There were 33 (38.4%), 41 (47.7%), and 12 (13.9%) patients in the Group Ⅰ, Group Ⅱ and Group Ⅲ, respectively. The average evaluation age of Group Ⅱ patients was 120.000 (90.000, 150.000) days, which was significantly older than the other two groups (<i>P</i> = 0.008). There was no gender difference and ARM type difference among three groups. The spinal deformity mainly occurred in main thoracic region (25/33) and proximal thoracic region (18/33) in Group Ⅰ, whereas in Group Ⅲ the spinal deformity mainly occurred in lumbar region (11/12) and thoracolumbar region (9/12) (<i>P</i> &lt; 0.05). There was no significant difference of the type for vertebral anomaly, levels of vertebral anomaly involved and the percentage of the multiple anomalies between Group Ⅰ and Group Ⅲ. Group Ⅱ patients had more serious sacral agenesis than Group Ⅲ (<i>P</i> = 0.013). The prevalence of associated rib anomalies was higher in Group Ⅰ patients than Group ⅠI (<i>P</i> = 0.002). Besides, the patients of Group Ⅰ had lower incidence of intraspinal anomalies (<i>P</i> &lt; 0.001) compared with the other two groups.</p> Conclusion <p>This study proposes a morphologic–phenotypic stratification for patients with anorectal malformations associated with congenital spinal deformities. Differences in clinical and radiological characteristics among the three groups have important implications for evaluation and treatment.</p>

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Radiological analysis of congenital spinal deformities in patients associated with anorectal malformations: a cross-sectional study of 86 patients

  • 期刊论文

  • 发表日期：

    2026年2月28日

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  • Fei Wang,
  • Cheng Zhang,
  • Weiwei Jiang,
  • Yue Lou,
  • Weibin Tang,
  • Wei Li,
  • Gang Lin

摘要

Objective

To propose a morphologic–phenotypic stratification and investigate the radiological characteristics for the patients with anorectal malformation (ARM) associated with congenital spinal deformities.

Methods

A retrospective review was conducted on ARM patients who had received treatment in the neonatal surgery department of our hospital from January 2008 to December 2022. A total of 86 patients diagnosed with spinal deformities were enrolled, including 49 males and 37 females. We classified the patients included into three groups according to the range vertebral anomalies involving: Group Ⅰ: Patients with thoracic/lumbar vertebral anomalies but no sacral agenesis (SA). Group Ⅱ: Patients with isolated SA. Group Ⅲ: Patients with both SA and thoracic/lumbar vertebral anomalies. Their demographic characteristics, ARM type, type and location of the vertebral anomalies, sacral agenesis and rib anomalies, and concomitant defects of other systems were analyzed.

Results

There were 33 (38.4%), 41 (47.7%), and 12 (13.9%) patients in the Group Ⅰ, Group Ⅱ and Group Ⅲ, respectively. The average evaluation age of Group Ⅱ patients was 120.000 (90.000, 150.000) days, which was significantly older than the other two groups (P = 0.008). There was no gender difference and ARM type difference among three groups. The spinal deformity mainly occurred in main thoracic region (25/33) and proximal thoracic region (18/33) in Group Ⅰ, whereas in Group Ⅲ the spinal deformity mainly occurred in lumbar region (11/12) and thoracolumbar region (9/12) (P < 0.05). There was no significant difference of the type for vertebral anomaly, levels of vertebral anomaly involved and the percentage of the multiple anomalies between Group Ⅰ and Group Ⅲ. Group Ⅱ patients had more serious sacral agenesis than Group Ⅲ (P = 0.013). The prevalence of associated rib anomalies was higher in Group Ⅰ patients than Group ⅠI (P = 0.002). Besides, the patients of Group Ⅰ had lower incidence of intraspinal anomalies (P < 0.001) compared with the other two groups.

Conclusion

This study proposes a morphologic–phenotypic stratification for patients with anorectal malformations associated with congenital spinal deformities. Differences in clinical and radiological characteristics among the three groups have important implications for evaluation and treatment.