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

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

研究成果: Article査読

1 被引用数 (Scopus)

抄録

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.

本文言語English
ページ(範囲)191-194
ページ数4
ジャーナルJournal of Human Genetics
43
3
DOI
出版ステータスPublished - 1998 1月 1

ASJC Scopus subject areas

  • 遺伝学
  • 遺伝学(臨床)

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