Joint laxity, vitreoretinal degeneration, facial abnormalities, and generalized skeletal alterations: A new syndrome?

Gen Nishimura, Tomonobu Hasegawa, Kyoko Sugii, Kaiichiro Tsuyama, Nobutake Matsuo

Research output: Contribution to journalArticle


A Japanese girl with a hitherto unknown combination of malformations is reported. The cardinal features included hyperextensibility of the joints, vitreoretinal degeneration with cataracts, and facial abnormalities, comprising hypertelorism, prominent eyes, downslanting of the palpebral fissures, mid-face recession with a short nose, deformed auricles, and microretrognathia with a high arched palate. Skeletal survey revealed multiple wormian bones, hypoplastic facial bones and mandible, narrow thorax with wavy ribs, narrow ilia, and coxa valga with slight broadening of the proximal femora, findings of which were individually minor, but the assemblage of which assisted in the syndromic identification. Although skin biopsy did not contribute to the causal clarification, it was tempting to speculate that the syndromic constellation of the present disorder resulted from an underlying defect of connective tissues.

Original languageEnglish
Pages (from-to)191-194
Number of pages4
JournalJournal of Human Genetics
Issue number3
Publication statusPublished - 1998 Jan 1



  • Cataracts
  • Connective tissue disorder
  • Joint laxity
  • Mid-face hypoplasia
  • Skeletal abnormalities
  • Vitreoretinal degeneration

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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