Related Experiment Video

Updated: Aug 24, 2026

Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model
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Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model

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Marfanoid habitus with abnormal situs

Kenjiro Kosaki1, Lynne M Bird, Jun Maeda

  • 1Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan. kkosaki@sc.keio.ac.jp

American Journal of Medical Genetics. Part A
|May 20, 2004
PubMed

Insights

This study identifies a rare combination of Marfanoid habitus and abnormal situs in two patients, suggesting a potential new syndrome. Further research is needed to understand this distinct genetic condition.

Area of Science:

  • Genetics
  • Developmental Biology
  • Medical Syndromes

Background:

  • Marfanoid habitus is linked to microfibril formation defects.
  • Abnormal situs (ambiguous or inversus) indicates issues with left-right axis determination during embryonic development.

Observation:

  • The co-occurrence of Marfanoid habitus and abnormal situs is exceptionally rare, with only one previous report.
  • This study documents this specific combination in two unrelated patients.

Findings:

  • The observed phenotype in these two patients strengthens the possibility of a distinct syndrome.
  • This combination suggests an overlap in the genetic pathways affecting connective tissue and organ positioning.

Implications:

  • Recognizing this combination as a distinct syndrome could improve diagnostic accuracy.
  • Further investigation may reveal the underlying genetic cause and potential therapeutic targets.

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