New form of postaxial acrofacial dysostosis?

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

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


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
Pages (from-to)438-443
Number of pages6
JournalAmerican Journal of Medical Genetics
Issue number4
StatePublished - 1991
Externally publishedYes


  • birth defects
  • limb deficiency
  • postaxial deficiency syndromes


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