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Perineal-mound defects
A K Sharma1, D Goel, S K Kothari
1Department of Pediatric Surgery, S.M.S. Medical College and attached S.P.M. Child Health Institute, Jaipur, India.
Insights
Perineal-mound (PMD) and genital-fold defects cause anorectal malformations (ARM). These defects present differently in males and females, suggesting a need for separate classification in ARM. Further research into their embryological origins is warranted.
Area of Science:
- Embryology
- Pediatric Surgery
- Medical Genetics
Background:
- Perineal-mound (PMD) and genital-fold defects are primary causes of anorectal malformations (ARM).
- These defects exhibit distinct presentations in females (typically low anomalies) and males (rarely, intermediate anomalies).
Purpose of the Study:
- To discuss a common embryological explanation for the varied presentation of PMD and genital-fold defects in males and females.
- To advocate for a separate classification of these anomalies within the broader category of ARM.
Main Methods:
- Review of embryological principles related to anorectal development.
- Clinical case series presentation of five male patients with PMD.
Main Results:
- Five male patients with PMD were identified.
- Three patients presented with imperforate anus, rectobulbar fistula, and perineal hypospadias.
- Two patients presented with imperforate anus and rectoperineal fistula.
Conclusions:
- PMD and genital-fold defects represent a distinct group of ARM with shared embryological origins but varied clinical manifestations.
- A revised classification system for ARM may be beneficial to accommodate these specific defects.
- Understanding the embryological basis is crucial for accurate diagnosis and management of these conditions.
Abstract:
Perineal-mound (PMD) and genital-fold defects cause anorectal malformations (ARM) in both sexes. They are common in females and usually present as a low anomaly (except rectovestibular fistula). They are rare in males and present as an intermediate anomaly. A common embryological explanation for these defects with varied presentation in males and females is discussed. These anomalies should be grouped separately in the classification of ARM. We present five male patients with PMD, three of whom had imperforate anus with rectobulbar fistula and perineal hypospadias and two who had imperforate anus with rectoperineal fistula.