Spectrum of urorectal septum malformation sequence

Area of Science:

• Developmental Biology
• Medical Genetics
• Pediatric Pathology

Background:

• Urorectal septum malformation sequence (URSMS) is a rare congenital disorder.
• It involves complex malformations across multiple organ systems.

Observation:

• This study analyzed eight autopsy cases of URSMS, varying in severity.
• Seven cases were complete URSMS, and one was partial.
• All cases exhibited gastrointestinal anomalies like imperforate anus and indeterminate genitalia.

Findings:

• Associated anomalies included renal (agenesis, dysplasia, hydronephrosis, horseshoe kidney, hypoplastic ectopic kidney), skeletal (sacral agenesis, lumbosacral dysraphism), and external genital malformations.
• Other observed defects were alobar holoprosencephaly, truncus arteriosus with hypoplastic lungs, and abdominal wall defects.

Implications:

• Understanding the spectrum of URSMS is crucial for accurate diagnosis and genetic counseling.
• This detailed case series contributes to the knowledge of URSMS, aiding in the delineation of its complex presentations.