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Mulibrey nanism

S Balg1, S Stengel-Rutkowski, C Döhlemann

  • 1Department of Genetics, University of Munich, Germany.

Clinical Dysmorphology
|January 1, 1995
PubMed
Summary
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Mulibrey nanism, a rare genetic disorder, was diagnosed in a boy with Russell-Silver phenotype. Cardiac investigation revealed constrictive pericarditis, a key feature of this syndrome, highlighting the importance of early diagnosis for genetic counseling.

Area of Science:

  • Genetics
  • Pediatrics
  • Cardiology

Background:

  • Mulibrey nanism (MGA) is a rare autosomal recessive genetic disorder.
  • It is characterized by growth retardation, distinctive facial features, and organomegaly.
  • Russell-Silver phenotype can be a presenting feature.

Observation:

  • A 4-year-old boy presented with features suggestive of Russell-Silver phenotype.
  • Diagnostic investigation led to the identification of Mulibrey nanism.
  • Cardiac evaluation was performed due to suspected syndromic features.

Findings:

  • Constrictive pericarditis was confirmed in the patient.
  • This cardiac manifestation is characteristic of Mulibrey nanism, despite not being part of the acronym.
  • The diagnosis was established based on clinical presentation and cardiac findings.

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Implications:

  • Early identification of Mulibrey nanism is crucial for comprehensive management.
  • Genetic counseling is essential for parents due to a 25% recurrence risk.
  • Understanding the full spectrum of Mulibrey nanism, including cardiac involvement, improves patient care and prognosis.