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MURCS association.

S Balasubramanian1, S Muralinath, So Shivbalan

  • 1Kanchi Kamakoti CHILDS Trust Hospital, Chennai, India. kkcth@vsnl.net

Indian Journal of Pediatrics
|July 29, 2004
PubMed
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The MURCS association, a rare developmental disorder involving Mullerian duct, renal, and cervicothoracic somite issues, was observed in an infant. This case highlights the condition alongside supernumerary ribs, presenting a unique clinical picture.

Area of Science:

  • Developmental Biology
  • Rare Diseases
  • Pediatric Case Reports

Background:

  • The MURCS association (Mullerian duct aplasia, Renal aplasia, Cervicothoracic Somite dysplasia) is a rare congenital disorder.
  • It is characterized by a specific combination of anomalies affecting the reproductive, renal, and musculoskeletal systems.
  • Understanding its spectrum and associated anomalies is crucial for diagnosis and management.

Observation:

  • A case report of a 7-month-old infant presenting with failure to thrive is described.
  • The infant exhibited features consistent with the MURCS association.
  • Notably, the patient also presented with supernumerary ribs, an additional finding not always documented.

Findings:

  • The case confirms the occurrence of MURCS association in infancy.

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  • The presence of supernumerary ribs alongside the classic MURCS features represents a significant clinical observation.
  • This finding expands the known phenotypic variability of the MURCS association.

    • Implications:

    • This case underscores the importance of thorough diagnostic evaluation in infants with failure to thrive and suspected developmental disorders.
    • Recognizing the association of supernumerary ribs with MURCS may aid in earlier diagnosis and comprehensive care planning.
    • Further case reports are needed to delineate the full spectrum and prevalence of associated anomalies in MURCS association.