Ophthalmo-acromelic syndrome: Report and review

Mustafa Tekin, Ercan Tutar, Saadet Arsan, Gülsüm Atay, Joann N Bodurtha

Research output: Contribution to journalArticle

Abstract

The ophthalmo-acromelic syndrome of Waardenburg is an autosomal recessive trait comprising eye malformations ranging from true anophthalmia to mild microphthalmia with acromelic malformations. Some 29 affected individuals have been reported since Waardenburg's first report in 1935 [Waardenburg et al., 1961]. We report on a new case with bilateral anophthalmia and typical limb malformations. The patient also was found to have interruption of the inferior vena cava with azygos continuation as an additional finding. The previous reports are reviewed to elucidate the spectrum of the syndrome.

Original languageEnglish (US)
Pages (from-to)150-154
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume90
Issue number2
DOIs
Publication statusPublished - Jan 17 2000
Externally publishedYes

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Keywords

  • Absence of inferior vena cava
  • Anophthalmia
  • Autosomal recessive inheritance
  • Limb anomalies
  • Ophthalmo-acromelic syndrome
  • Waardenburg

ASJC Scopus subject areas

  • Genetics(clinical)

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