Marfanoid habitus with abnormal situs

Kenjiro Kosaki, Lynne M. Bird, Jun Maeda, Masataka Higuchi, Marilyn C. Jones, Morio Matsumoto

Research output: Contribution to journalArticlepeer-review

1 Citation (Scopus)


Marfanoid habitus suggests abnormal microfibril formation, whereas a situs ambiguus or situs inversus phenotype points to detective left-right axis determination. The concurrence of these two abnormalities has been reported only once in the literature. We report a similar phenotype in two unrelated patients. Documentation of this specific combination of Marfanoid habitus and abnormal situs gives further credence to the notion that the combination may represent a distinct syndrome.

Original languageEnglish
Pages (from-to)310-312
Number of pages3
JournalAmerican Journal of Medical Genetics
Issue number3
Publication statusPublished - 2004 Jun


  • Marfan syndrome
  • Scoliosis
  • Situs ambiguus
  • Situs inversus

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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