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Unusual complications in siblings with marfanoid phenotype

D G de Silva1, T P Gunawardena, F M Law

  • 1Department of Paediatrics, University of Ruhuna, Karapitiya, Galle, Sri Lanka.

Archives of Disease in Childhood
|September 1, 1996
PubMed

Insights

Marfan syndrome can present with varied symptoms, sometimes mimicking other connective tissue disorders. This study reports two siblings with marfanoid features, visceral diverticula, and diaphragmatic eventration, highlighting a rare combination of conditions.

Area of Science:

  • Genetics
  • Connective Tissue Disorders
  • Gastrointestinal Motility

Background:

  • Marfan syndrome is a genetic disorder affecting connective tissue, characterized by diverse clinical manifestations.
  • Overlap in symptoms between Marfan syndrome and other connective tissue disorders complicates diagnosis.
  • Visceral diverticula are rare findings, previously reported only once in adults with marfanoid features.

Observation:

  • Two siblings from a consanguineous marriage presented with marfanoid features.
  • Both siblings exhibited visceral diverticula, a rare gastrointestinal anomaly.
  • Diaphragmatic eventration was also noted in both affected siblings.

Findings:

  • This case report describes a unique co-occurrence of marfanoid habitus, visceral diverticula, and diaphragmatic eventration in siblings.
  • The findings suggest a potential syndromic association or a shared genetic/developmental pathway.
  • Recessive inheritance is suggested by the consanguineous marriage and affected siblings.

Implications:

  • Broadens the clinical spectrum associated with Marfan syndrome and related connective tissue disorders.
  • Highlights the importance of considering gastrointestinal and diaphragmatic anomalies in individuals with marfanoid features.
  • May prompt further research into the genetic underpinnings of this specific combination of symptoms.

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