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Updated: Jun 30, 2026

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

Published on: September 20, 2018

[MURCS association: case report].

Alfredo Saad Ganem¹, Carlos Gerardo Salazar López-Ortiz, Carlos Andrés Lejtik Alva

¹Hospital Español de México.

Ginecologia Y Obstetricia De Mexico

|September 20, 2008

Summary

The MURCS association, a rare condition involving Mullerian, Renal, Cervicothoracic, and Somite abnormalities, can cause primary amenorrhea in phenotypically normal individuals. This case highlights the importance of recognizing this congenital malformation syndrome.

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Area of Science:

Reproductive Medicine
Medical Genetics
Developmental Biology

Background:

The MURCS association is a rare congenital condition characterized by Mullerian, Renal, Cervicothoracic, and Somite abnormalities.
It presents as a clinical term of association, referring to non-randomized congenital malformations in a single subject.
Diagnosis often relies on recognizing the constellation of specific developmental anomalies.

Observation:

A phenotypically normal 16-year-old female presented with primary amenorrhea.
Clinical evaluation revealed Müllerian malformations and cervicothoracic dysplasia.
These findings were consistent with the diagnostic criteria for the MURCS association.

Findings:

The patient's presentation of primary amenorrhea was directly linked to complex Müllerian duct anomalies.

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Last Updated: Jun 30, 2026

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

Published on: September 20, 2018

Cervicothoracic dysplasia was identified as a key component of her congenital malformation spectrum.

The integrated diagnosis of MURCS association was established based on the co-occurrence of these specific abnormalities.

Implications:

This case underscores the importance of considering rare genetic syndromes in the evaluation of primary amenorrhea.
Early and accurate diagnosis of the MURCS association is crucial for appropriate management and genetic counseling.
Further research into the genetic underpinnings and developmental pathways of the MURCS association is warranted.