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Pediatrics4 papers

Charlie M syndrome

Last edited: 4/16/2026

Overview

3-M syndrome is a rare, autosomal recessive disorder characterized by prenatal growth restriction, distinctive facial features, and absence of microcephaly and intellectual disability 1.

Diagnosis

  • Clinical history and examination identifying growth restriction and facial dysmorphism
  • Radiographic findings to confirm diagnosis
  • Additional features may include small nails and abnormal dermatoglyphics 1
  • Management

  • No specific pharmacological treatments mentioned; management is supportive 1
  • Regular monitoring for associated complications and developmental milestones 1
  • Special Populations

  • No specific information provided regarding pregnancy, pediatrics, elderly, or comorbidities 1
  • Key Recommendations

  • Establish diagnosis through clinical evaluation, radiographic assessment, and identification of characteristic features (Evidence: Expert opinion) 1
  • Implement supportive care focusing on growth monitoring and developmental support (Evidence: Expert opinion) 1
  • References

    1 Marik I, Marikova O, Kuklik M, Zemkova D, Kozlowski K. 3-M syndrome in two sisters. Journal of paediatrics and child health 2002. link

    Original source

    1. [1]
      3-M syndrome in two sisters.Marik I, Marikova O, Kuklik M, Zemkova D, Kozlowski K Journal of paediatrics and child health (2002)

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