[Polythelia as a sign of other congenital malformations: a clinical example]

Area of Science:

• Pediatric Surgery
• Clinical Genetics
• Developmental Biology

Background:

• Congenital anomalies can present with complex and varied clinical manifestations.
• Anterior ectopic anus is a rare anorectal malformation that can lead to severe constipation.
• Supernumerary nipples, or polymastia, are accessory nipples that can be associated with other developmental abnormalities.

Observation:

• A case of a young girl presenting with severe chronic constipation is described.
• The constipation was diagnosed as being caused by an anteriorly displaced anus (anterior ectopic anus).
• The patient also exhibited supernumerary nipples, indicating a potential syndromic association.

Findings:

• The clinical presentation underscores a specific association between anterior ectopic anus and supernumerary nipples in this patient.
• This case supports the hypothesis that supernumerary nipples may serve as a marker for underlying congenital anomalies.
• Diagnostic evaluation confirmed the anatomical abnormalities contributing to the patient's severe constipation.

Implications:

• Recognition of supernumerary nipples should prompt a thorough investigation for other potential congenital anomalies, including anorectal malformations.
• Early identification and management of associated anomalies can improve patient outcomes and prevent long-term complications.
• This case contributes to the understanding of rare congenital conditions and their clinical management.