New form of postaxial acrofacial dysostosis?

R. Arens, B. Reichman, M. B.M. Katznelson, R. M. Goodman

Research output: Contribution to journalArticle

3 Scopus citations

Abstract

We report on a 2-month-old Sephardic Jewish girl with bilateral and symmetrical deficiency of the fifth digital rays of all 4 limbs, combined with severe deformations and other malformations of the limbs. These findings were associated with orofacial malformations, as well as with visceral anomalies differing from those found in other postaxial deficiency syndromes. Parents were closely consanguineous. We assume this patient represents a new form of postaxial acrofacial dysostosis.

Original languageEnglish (US)
Pages (from-to)438-443
Number of pages6
JournalAmerican Journal of Medical Genetics
Volume41
Issue number4
DOIs
StatePublished - Jan 1 1991
Externally publishedYes

Keywords

  • birth defects
  • limb deficiency
  • postaxial deficiency syndromes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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