Marfanoid habitus with abnormal situs

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

Research output: Contribution to journalArticle

Abstract

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
Volume127
Issue number3
Publication statusPublished - 2004 Jun 1

Keywords

  • Marfan syndrome
  • Scoliosis
  • Situs ambiguus
  • Situs inversus

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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  • Cite this

    Kosaki, K., Bird, L. M., Maeda, J., Higuchi, M., Jones, M. C., & Matsumoto, M. (2004). Marfanoid habitus with abnormal situs. American Journal of Medical Genetics, 127(3), 310-312.